Expanding the spectrum of phenotypes associated with germlinePIGAmutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities-Reference-Cited by-同舟云学术

Expanding the spectrum of phenotypes associated with germlinePIGAmutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities

Published:2013-11-20 Issue:1 Volume:164 Page:29-35
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

van der Crabben Saskia N.¹,Harakalova Magdalena¹,Brilstra Eva H.¹,van Berkestijn Frédérique M.C.²,Hofstede Floris C.³,van Vught Adrianus J.⁴,Cuppen Edwin¹,Kloosterman Wigard¹,Ploos van Amstel Hans Kristian¹,van Haaften Gijs¹,van Haelst Mieke M.¹

Affiliation:

1. Department of Medical Genetics; University Medical Center Utrecht; Utrecht The Netherlands

2. Department of Paediatrics; University Medical Center Utrecht; Utrecht The Netherlands

3. Department of Metabolic Diseases; University Medical Center Utrecht; Utrecht The Netherlands

4. Department of Paediatric Intensive Care; University Medical Center Utrecht; Utrecht The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36184/fullpdf

Reference17 articles.

1. Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency;Almeida;Nat Med,2006

2. Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing;Harakalova;Nat Protoc,2011

3. X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face;Harakalova;J Med Genet,2012

4. The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria;Johnston;Am J Hum Gen,2012

5. Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline;Kloosterman;Hum Mol Genet,2011

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