Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-Report of the second family withB3GAT3mutation and expansion of the phenotype-Reference-Cited by-同舟云学术

Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-Report of the second family withB3GAT3mutation and expansion of the phenotype

Published:2014-03-25 Issue:6 Volume:164 Page:1580-1586
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

von Oettingen Julia E.¹^ORCID,Tan Wen-Hann²,Dauber Andrew¹³

Affiliation:

1. Division of Endocrinology; Boston Children's Hospital; Boston Massachusetts

2. Division of Genetics; Boston Children's Hospital; Boston Massachusetts

3. Program in Medical and Population Genetics; Broad Institute; Cambridge Massachusetts

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference19 articles.

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5. A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type;Faiyaz-Ul-Haque;Am J Med Genet,2004

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