Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE

Journal article

Peer reviewed

Jill A ROSENFELD, Blake C BALLIF, Donna M MARTIN, Arthur S AYLSWORTH, Bassem A BEJJANI, Beth S TORCHIA and Lisa G SHAFFER

Human genetics, Vol.127(4), pp.421-440

2010

Handle:

https://hdl.handle.net/2376/105728

PMID: 20066439

Abstract

Fundamental and applied biological sciences. Psychology

Classical genetics, quantitative genetics, hybrids

Human

Neurology

Malformations of the nervous system

Biological and medical sciences

Genetics of eukaryotes. Biological and molecular evolution

Medical sciences

12 Record Views

Title: Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE
Creators: Jill A ROSENFELD - Signature Genomic Laboratories, 2820 N. Astor St, Spokane, WA 99207, United States
Blake C BALLIF - Signature Genomic Laboratories, 2820 N. Astor St, Spokane, WA 99207, United States
Donna M MARTIN - Department of Pediatrics and Genetics, University of Michigan Medical Center, Ann Arbor, MI, United States
Arthur S AYLSWORTH - Department of Pediatrics and Genetics, University of North Carolina, Chapel Hill, NC, United States
Bassem A BEJJANI - Signature Genomic Laboratories, 2820 N. Astor St, Spokane, WA 99207, United States
Beth S TORCHIA - Signature Genomic Laboratories, 2820 N. Astor St, Spokane, WA 99207, United States
Lisa G SHAFFER - Signature Genomic Laboratories, 2820 N. Astor St, Spokane, WA 99207, United States
Publication Details: Human genetics, Vol.127(4), pp.421-440
Academic Unit: Center for Reproductive Biology; Medical Education and Clinical Science, Department of
Publisher: Springer; Heidelberg
Identifiers: 99900546607401842
Language: English
Resource Type: Journal article