Invited editorial comment-the human phenotype of germlinePIGAmutations

Author:

Biesecker Leslie G.1

Affiliation:

1. American Journal of Medical Genetics; Salt Lake City UT

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference6 articles.

1. Carrier testing for severe childhood recessive diseases by next-generation sequencing;Bell;Sci Transl Med,2011

2. From syndrome families to functional genomics;Brunner;Nat Rev Genet,2004

3. Expanding the spectrum of phenotypes associated with germline PIGA mutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities;Harakalova;Am J Med Genet A.,2013

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

5. Considerations for a multiaxis nomenclature system for medical genetics;Robin;Genet Med,2001

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