Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome-Reference-Cited by-同舟云学术

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome

Published:2010-06-03 Issue:7 Volume:152A Page:1661-1669
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.,Nezarati Marjan M.,Gillessen-Kaesbach Gabriele,Meinecke Peter,Mendoza Roberto,Mornet Etienne,Brun-Heath Isabelle,Squarcioni Catherine Prost,Legeai-Mallet Laurence,Munnich Arnold,Cole David E.C.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference17 articles.

1. Duplication 3q syndrome: Molecular delineation of the critical region;Aqua;Am J Med Genet,1995

2. Brachytelephalangy, hyperphosphatasia and mental retardation: A newly recognized autosomal recessive condition;Gillessen-Kaesbach;Med Gen,1999

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

4. Brachmann-de Lange syndrome: Delineation of the clinical phenotype;Ireland;Am J Med Genet,1993

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