2-propanol has been researched along with Craniofacial Abnormalities in 21 studies
2-Propanol: An isomer of 1-PROPANOL. It is a colorless liquid having disinfectant properties. It is used in the manufacture of acetone and its derivatives and as a solvent. Topically, it is used as an antiseptic.
propan-2-ol : A secondary alcohol that is propane in which one of the hydrogens attached to the central carbon is substituted by a hydroxy group.
Craniofacial Abnormalities: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Clinically, coloboma has been described as a feature in a WDR37-related disorder and a PACS1-related disorder (Schuurs-Hoeijmakers syndrome), but not in a PACS2-related disorder." | 2.72 | Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis. ( Kosaki, K; Miyama, S; Sakaguchi, Y; Takenouchi, T; Uehara, T; Yoshihashi, H, 2021) |
| "Traboulsi syndrome is a rare autosomal recessive genetic disorder." | 1.62 | A novel mutation in the aspartate beta-hydroxylase ( ( Kaur, I; Senthil, S; Sharma, S; Vishwakarma, S, 2021) |
| "The syndrome is due to pathogenic variants on either ACTB or ACTG1 genes (Di Donato et al." | 1.48 | New ocular finding in Baraitser-Winter syndrome (BWS). ( Daroca, J; Gomez, R; Lacassie, Y; Leon, A; Rall, N, 2018) |
| "Axenfeld-Rieger syndrome is an ocular anterior segment dysgenesis, autosomal dominantly inherited, commonly associated with glaucoma and systemic anomalies." | 1.34 | [Variability of clinical manifestations in the family with Axenfeld-Rieger syndrome]. ( Kamińska, A; Pawluczyk-Dyjecińska, M; Sokołowska-Oracz, A; Szaflik, JP, 2007) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 4 (19.05) | 18.2507 |
| 2000's | 4 (19.05) | 29.6817 |
| 2010's | 8 (38.10) | 24.3611 |
| 2020's | 5 (23.81) | 2.80 |
| Authors | Studies |
|---|---|
| Jones, G | 1 |
| Johnson, K | 1 |
| Eason, J | 1 |
| Hamilton, M | 1 |
| Osio, D | 1 |
| Kanani, F | 1 |
| Baptista, J | 1 |
| Suri, M | 1 |
| Lima, FL | 1 |
| Cronemberger, S | 1 |
| Albuquerque, ALB | 1 |
| Barbosa, LF | 1 |
| Cunha, FR | 1 |
| Veloso, AW | 1 |
| Diniz-Filho, A | 1 |
| Friedman, E | 1 |
| De Marco, L | 1 |
| Yeung, HH | 1 |
| Senthil, S | 1 |
| Sharma, S | 1 |
| Vishwakarma, S | 1 |
| Kaur, I | 1 |
| Sakaguchi, Y | 1 |
| Yoshihashi, H | 1 |
| Uehara, T | 1 |
| Miyama, S | 1 |
| Kosaki, K | 1 |
| Takenouchi, T | 1 |
| Van Hoorde, T | 1 |
| Nerinckx, F | 1 |
| Kreps, E | 1 |
| Roels, D | 1 |
| Huyghe, P | 1 |
| Van Heetvelde, M | 1 |
| Verdin, H | 1 |
| De Baere, E | 1 |
| Balikova, I | 1 |
| Leroy, BP | 1 |
| Rall, N | 1 |
| Leon, A | 1 |
| Gomez, R | 1 |
| Daroca, J | 1 |
| Lacassie, Y | 1 |
| Chang, TC | 1 |
| Bauer, M | 1 |
| Puerta, HS | 1 |
| Greenberg, MB | 1 |
| Cavuoto, KM | 1 |
| Gironi, LC | 1 |
| Zottarelli, F | 1 |
| Savoldi, G | 1 |
| Notarangelo, LD | 1 |
| Basso, ME | 1 |
| Ferrero, I | 1 |
| Timeus, F | 1 |
| Fagioli, F | 1 |
| Maiuri, L | 1 |
| Colombo, E | 1 |
| Savoia, P | 1 |
| Chandran, P | 1 |
| Chermakani, P | 1 |
| Venkataraman, P | 1 |
| Thilagar, SP | 1 |
| Raman, GV | 1 |
| Sundaresan, P | 1 |
| Awais, T | 1 |
| Ali, M | 1 |
| Khan, SA | 1 |
| Masket, S | 1 |
| Patel, N | 1 |
| Khan, AO | 1 |
| Mansour, A | 1 |
| Mohamed, JY | 1 |
| Al-Assiri, A | 1 |
| Haddad, R | 1 |
| Jia, X | 1 |
| Xiong, Y | 1 |
| Mégarbané, A | 1 |
| Traboulsi, EI | 1 |
| Alkuraya, FS | 1 |
| Al-Ani, SA | 1 |
| Locke, MB | 1 |
| Rees, M | 1 |
| de Chalain, TM | 1 |
| Müllner-Eidenböck, A | 1 |
| Moser, E | 1 |
| Klebermass, N | 1 |
| Amon, M | 1 |
| Walter, MC | 1 |
| Lochmüller, H | 1 |
| Gooding, R | 1 |
| Kalaydjieva, L | 1 |
| Kamińska, A | 1 |
| Sokołowska-Oracz, A | 1 |
| Pawluczyk-Dyjecińska, M | 1 |
| Szaflik, JP | 1 |
| Temtamy, SA | 1 |
| Salam, MA | 1 |
| Aboul-Ezz, EH | 1 |
| Hussein, HA | 1 |
| Helmy, SA | 1 |
| Shalash, BA | 1 |
| Werner, W | 1 |
| Kraft, S | 1 |
| Callen, DF | 1 |
| Bartsch, O | 1 |
| Hinkel, GK | 1 |
| Monaghan, KG | 1 |
| Van Dyke, DL | 1 |
| Wiktor, A | 1 |
| Feldman, GL | 1 |
| Banerjee-Basu, S | 1 |
| Baxevanis, AD | 1 |
| Rosias, PR | 1 |
| Sijstermans, JM | 1 |
| Theunissen, PM | 1 |
| Pulles-Heintzberger, CF | 1 |
| De Die-Smulders, CE | 1 |
| Engelen, JJ | 1 |
| Van Der Meer, SB | 1 |
4 reviews available for 2-propanol and Craniofacial Abnormalities
| Article | Year |
|---|---|
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
Topics: Abnormalities, Multiple; Amino Acid Substitution; Cerebellum; Choroid; Coloboma; Craniofacial Abnorm | 2021 |
New autosomal recessive multiple congenital abnormalities/mental retardation syndrome with craniofacial dysmorphism absent corpus callosum, iris colobomas and connective tissue dysplasia.
Topics: Abnormalities, Multiple; Adult; Agenesis of Corpus Callosum; Child; Coloboma; Connective Tissue; Cra | 1996 |
Cytogenetic and clinical findings in a patient with a deletion of 16q23.1: first report of bilateral cataracts and a 16q deletion.
Topics: Abnormalities, Multiple; Autistic Disorder; Cataract; Child, Preschool; Chromosome Aberrations; Chro | 1997 |
Phenotypic variability of the cat eye syndrome. Case report and review of the literature.
Topics: Abnormalities, Multiple; Adult; Chromosomes, Human, Pair 22; Coloboma; Craniofacial Abnormalities; F | 2001 |
17 other studies available for 2-propanol and Craniofacial Abnormalities
| Article | Year |
|---|---|
Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome.
Topics: Aspartic Acid; Calcium-Binding Proteins; Child; Craniofacial Abnormalities; Ectopia Lentis; Fibrilli | 2022 |
Traboulsi syndrome without features of Marfan syndrome caused by a novel homozygous
Topics: Adolescent; Consanguinity; Craniofacial Abnormalities; Ectopia Lentis; Eye Abnormalities; Female; Fi | 2023 |
Lens Dislocation, Facial Dysmorphism, and Spontaneous Blebs.
Topics: Adolescent; Calcium-Binding Proteins; Craniofacial Abnormalities; Diagnosis, Differential; DNA; DNA | 2019 |
A novel mutation in the aspartate beta-hydroxylase (
Topics: Adolescent; Adult; Calcium-Binding Proteins; Case-Control Studies; Craniofacial Abnormalities; Ectop | 2021 |
Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in
Topics: Adolescent; Calcium-Binding Proteins; Cataract Extraction; Codon, Nonsense; Consanguinity; Craniofac | 2021 |
New ocular finding in Baraitser-Winter syndrome (BWS).
Topics: Actins; Child, Preschool; Coloboma; Craniofacial Abnormalities; Female; Humans; Intellectual Disabil | 2018 |
Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair.
Topics: Abnormalities, Multiple; Adaptor Proteins, Signal Transducing; Amblyopia; Child, Preschool; Choroid; | 2017 |
Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes.
Topics: Abnormalities, Multiple; Adult; Chediak-Higashi Syndrome; Child, Preschool; Craniofacial Abnormaliti | 2019 |
A novel 5 bp homozygous deletion mutation in ASPH gene associates with Traboulsi syndrome.
Topics: Adult; Base Pairing; Calcium-Binding Proteins; Craniofacial Abnormalities; Ectopia Lentis; Exons; Ge | 2019 |
Traboulsi Syndrome in Pakistan.
Topics: Adolescent; Adult; Craniofacial Abnormalities; Ectopia Lentis; Female; Humans; Intraocular Pressure; | 2019 |
Cataract surgical problem: February consultation #1.
Topics: Cataract; Cataract Extraction; Coloboma; Cornea; Craniofacial Abnormalities; Eye Abnormalities; Foot | 2014 |
Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.
Topics: Amino Acid Sequence; Animals; Anterior Eye Segment; Calcium-Binding Proteins; Craniofacial Abnormali | 2014 |
Our experiences managing a rare cranio-orbital cleft.
Topics: Bone Transplantation; Coloboma; Craniofacial Abnormalities; Craniotomy; Eyelids; Frontal Bone; Human | 2008 |
Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome.
Topics: Adolescent; Cataract; Cataract Extraction; Child; Child, Preschool; Cornea; Craniofacial Abnormaliti | 2004 |
[Variability of clinical manifestations in the family with Axenfeld-Rieger syndrome].
Topics: Abnormalities, Multiple; Adult; Cornea; Craniofacial Abnormalities; Diagnostic Techniques, Ophthalmo | 2007 |
A small deletion of 16q23.1-->16q24.2 [del(16)(q23.1q24.2).ish del(16)(q23.1q24.2)(D16S395+, D16S348-, P5432+)] in a boy with iris coloboma and minor anomalies.
Topics: Child, Preschool; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 16; Coloboma; Cr | 1997 |
Threading analysis of the Pitx2 homeodomain: predicted structural effects of mutations causing Rieger syndrome and iridogoniodysgenesis.
Topics: Abnormalities, Multiple; Amino Acid Sequence; Amino Acid Substitution; Animals; Calorimetry; Conserv | 1999 |