Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)-Reference-Cited by-同舟云学术

Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)

Published:2012-02-07 Issue:3 Volume:158A Page:553-558
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Thompson Miles D.,Roscioli Tony,Marcelis Carlo,Nezarati Marjan M.,Stolte-Dijkstra Irene,Sharom Frances J.,Lu Peihua,Phillips John A.,Sweeney Elizabeth,Robinson Peter N.,Krawitz Peter,Yntema Helger G.,Andrade Danielle M.,Brunner Han G.,Cole David E.C.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference15 articles.

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2. Mental retardation, cataracts, and unexplained hyperphosphatasemia;Gomes;Arch Dis Child,1970

3. Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome;Horn;Eur J Med Genet,2010

4. Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: Expanded clinical spectrum;Horn;Am J Med Genet Part A,2011

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