The phenotypic spectrum of GL13 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; no phenotype prediction from the position of GL13 mutations
Article Abstract:
The phenotypic spectrum of GL13 morphopathies is discussed and it is proposed that all phenotypes associated with FL13 mutations be called 'GL13 morphopathies.' The phenotypic limits of the resulting syndromes are not clear and no genotype-phenotype correlation appears to exist. The spectrum includes autosomal dominant preaxial polydactyly type-IV (PPD-IV) and postaxial polydactyly type-A/B (PAP-A/B). A study was carried out in one family with PPD-IV, three families with dominant PAP-A/B, and one with Pallister-Hall syndrome (PHS).
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
User Contributions:
Comment about this article or add new information about this topic:
Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34
Article Abstract:
Two Indian pedigrees (UR017 and UR019) with isolated, nonsyndromic cleft palate (CL-P), in which the anomaly segregates as an autosomal dominant trait, are analyzed. The analysis resulted in the identification a novel genomic region on 13q33.1-34 that harbors a high-risk variant for CL-P in these Indian families.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
User Contributions:
Comment about this article or add new information about this topic:
- Abstracts: The new federalism in life sciences policy: What states and federal governments should do to ensure progress in the life sciences
- Abstracts: Two-dimensional crystallography of TFIIB- and IIE-RNA polymerase II complexes: implications for start site selection and initiation complex formation
- Abstracts: Type 2 diabetes TCF7L2 risk genotypes alter birth weight: A study of 24, 053 individuals. A common haplotype of the glucokinase gene alters fasting glucose and birth weight: Association in six studies and population-genetics analyses
- Abstracts: Autoscreening of restriction endonucleases for PCR-restriction fragment length polymorphism identification of fungal species, with Pleurotus spp. as an example
- Abstracts: Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu