The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes-Reference-Cited by-同舟云学术

The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes

Published:2016-04-26 Issue:7 Volume:170 Page:1754-1762
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Gripp Karen W.¹,Baker Laura¹,Telegrafi Aida²,Monaghan Kristin G.²

Affiliation:

1. Division of Medical Genetics; A. I. du Pont Hospital for Children/Nemours; Wilmington Delaware

2. GeneDx; Gaithersburg Maryland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference17 articles.

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2. Dysmorphology at a distance: Results of a web-based diagnostic service;Douzgou;Eur J Hum Genet,2013

3. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing;Green;Genet Med,2013

4. Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: Historical review and recent advances using next generation sequencing;Kosho;Am J Med Genet Part C,2014

5. Clinical exome sequencing for genetic identification of rare Mendelian disorders;Lee;JAMA,2014

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