Unexpected exome sequencing result: De novoTRPS1mutation in an infant with infantile scoliosis, mild developmental delay, and history of consanguinity-Reference-Cited by-同舟云学术

Unexpected exome sequencing result: De novoTRPS1mutation in an infant with infantile scoliosis, mild developmental delay, and history of consanguinity

Published:2014-03-19 Issue:5 Volume:164 Page:1334-1337
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet

Author:

Casci Ian¹,Accousti William²,Lacassie Yves³

Affiliation:

1. Department of Genetics; LSU Health Sciences Center; New Orleans Louisiana

2. Department of Orthopedics; LSU Health Sciences Center and Children's Hospital; New Orleans Louisiana

3. Department of Pediatrics; Division of Genetics; LSU Health Sciences Center and Children's Hospital; New Orleans Louisiana

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36430/fullpdf

Reference18 articles.

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3. The trichorhinophalangeal syndrome: Study of 16 patients in one family;Felman;Am J Roentgenol,1977

4. A novel mutation in exon 7 in a family with mild tricho-rhino-phalangeal syndrome type I;Gentile;Clin Genet,2003

5. Gonzalez K Palmaer E Shahmirzadi L Tang S Chao E Neidich J Wei J Zeng W 2013 de novo

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3. Diagnostic exome sequencing for patients with a family history of consanguinity: over 38% of positive results are not autosomal recessive pattern;Journal of Human Genetics;2015-10-22

4. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions;Genetics in Medicine;2015-07