X-linked brachytelephalangic chondrodysplasia punctata: A simple trait that is not so simple-Reference-Cited by-同舟云学术

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X-linked brachytelephalangic chondrodysplasia punctata: A simple trait that is not so simple

Published:2009-11 Issue:11 Volume:149A Page:2464-2468
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Casarin Alberto,Rusalen Francesca,Doimo Mara,Trevisson Eva,Carraro Silvia,Clementi Maurizio,Tenconi Romano,Baraldi Eugenio,Salviati Leonardo

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference15 articles.

1. A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD;Boycott;Am J Med Genet Part A,2003

2. A missense mutation in gamma-glutamyl carboxylase gene causes combined deficiency of all vitamin K-dependent blood coagulation factors;Brenner;Blood,1998

3. X-linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability;Brunetti-Pierri;Am J Med Genet Part A,2003

4. Late diagnosis of maternal PKU in a family segregating an arylsulfatase [corrected] E mutation causing symmetrical chondrodysplasia punctata;Dahl;Mol Genet Metab,1999

5. Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14);de Vries;Am J Med Genet,1999

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata;Clinical Dysmorphology;2022-03-07

2. Prenatal Diagnosis in a Fetus With X-Linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation in ARSE;Frontiers in Genetics;2021-09-24

3. Human teratogens and genetic phenocopies. Understanding pathogenesis through human genes mutation;European Journal of Medical Genetics;2017-01

4. Chondrodysplasia Punctata;Diagnostic Imaging: Obstetrics;2016

5. From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders;World Journal of Clinical Cases;2015

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