A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome-Reference-Cited by-同舟云学术

A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome

Published:2017-02-17 Issue:3 Volume:173 Page:712-715
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Armstrong Linlea¹²³⁴,Tarailo-Graovac Maja³⁴⁵⁶,Sinclair Graham²³⁴,Seath Kimberly I.¹⁵,Wasserman Wyeth W.³⁴⁵⁶,Ross Colin J.³⁴⁵⁶⁷,van Karnebeek Clara D. M.³⁴⁵⁷⁸

Affiliation:

1. Provincial Medical Genetics Program; B.C. Women's Hospital & Health Centre; Vancouver Canada

2. Department of Pathology and Laboratory Medicine; University of British Columbia; Vancouver Canada

3. BC Children's Hospital Research Institute; University of British Columbia; Vancouver Canada

4. Treatable Intellectual Disability Endeavour in British Columbia; Vancouver Canada

5. Department of Medical Genetics; B.C. Women's Hospital & Health Centre; Vancouver Canada

6. Center for Molecular Medicine and Therapeutics; University of British Columbia; Vancouver Canada

7. Department of Pediatrics; University of British Columbia; Vancouver Canada

8. Department of Pediatrics; Academic Medical Centre; Amsterdam The Netherlands

Funder

B.C. Children's Hospital Foundation

Genome BC

Canadian Institutes of Health Research

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference9 articles.

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3. The NDST gene family in zebrafish: Role of NDST1B in pharyngeal arch formation;Filipek-Górniok;PLoS ONE,2015

4. A general framework for estimating the relative pathogenicity of human genetic variants;Kircher;Nat Genet,2014

5. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm;Kumar;Nat Protoc,2009

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