Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to theFGFR3 Lys650Met mutation-Reference-Cited by-同舟云学术

Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to theFGFR3 Lys650Met mutation

Published:2007 Issue:2 Volume:146A Page:212-218
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Zankl Andreas,Elakis George,Susman Rachel D.,Inglis Garry,Gardener Glenn,Buckley Michael F.,Roscioli Tony

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference14 articles.

1. Long-term survival in typical thanatophoric dysplasia type 1

2. Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): Phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3

3. Distinct Missense Mutations of the FGFR3 Lys650 Codon Modulate Receptor Kinase Activation and the Severity of the Skeletal Dysplasia Phenotype

4. Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype

5. Some chondrodysplasias with short limbs: Molecular perspectives

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