Deletions and Duplications of Developmental Pathway Genes in 5q31 Contribute to Abnormal Phenotypes

Jill A ROSENFELD; Joanne MILISA DRAUTZ; Allen N LAMB; Roger A SCHULTZ; Blake C BALLIF; Bassem A BEJJANI; Marzena GAJECKA; Lisa G SHAFFER; Carol L CLERICUZIO; Tom CUSHING; Salmo RASKIN; Judith MARTIN; Raymond C TERVO; Jose A PITARQUE; Dorota M NOWAK; Justyna A KAROLAK

doi:10.1002/ajmg.a.34100

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Deletions and Duplications of Developmental Pathway Genes in 5q31 Contribute to Abnormal Phenotypes

Journal article

Peer reviewed

Deletions and Duplications of Developmental Pathway Genes in 5q31 Contribute to Abnormal Phenotypes

Jill A ROSENFELD, Joanne MILISA DRAUTZ, Allen N LAMB, Roger A SCHULTZ, Blake C BALLIF, Bassem A BEJJANI, Marzena GAJECKA, Lisa G SHAFFER, Carol L CLERICUZIO, Tom CUSHING, …

American journal of medical genetics. Part A, Vol.155(8), pp.1906-1916

2011

DOI: https://doi.org/10.1002/ajmg.a.34100

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https://hdl.handle.net/2376/108333

PMID: 21744490

Abstract

Fundamental and applied biological sciences. Psychology

Classical genetics, quantitative genetics, hybrids

Human

Diseases of cornea, anterior segment and sclera

Medical genetics

Biological and medical sciences

Genetics of eukaryotes. Biological and molecular evolution

Medical sciences

Ophthalmology

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Title: Deletions and Duplications of Developmental Pathway Genes in 5q31 Contribute to Abnormal Phenotypes
Creators: Jill A ROSENFELD - Signature Genomic Laboratories, Spokane, Washington, United States
Joanne MILISA DRAUTZ - Pediatric Genetics Division, Department of Pediatrics, University of New Mexico, Albuquerque, New Mexico, United States
Allen N LAMB - Signature Genomic Laboratories, Spokane, Washington, United States
Roger A SCHULTZ - Signature Genomic Laboratories, Spokane, Washington, United States
Blake C BALLIF - Signature Genomic Laboratories, Spokane, Washington, United States
Bassem A BEJJANI - Signature Genomic Laboratories, Spokane, Washington, United States
Marzena GAJECKA - Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland
Lisa G SHAFFER - Signature Genomic Laboratories, Spokane, Washington, United States
Carol L CLERICUZIO - Pediatric Genetics Division, Department of Pediatrics, University of New Mexico, Albuquerque, New Mexico, United States
Tom CUSHING - Pediatric Genetics Division, Department of Pediatrics, University of New Mexico, Albuquerque, New Mexico, United States
Salmo RASKIN - GENETIKA—Centro de Aconselhamento e Laboratorio de Genetica, Curitiba, Parana, Brazil
Judith MARTIN - Providence Genetics Clinic, Spokane, Washington, United States
Raymond C TERVO - Gillette Children's Specialty Healthcare, St Paul, Minnesota, United States
Jose A PITARQUE - Department of Ophthalmology, Hospital Metropolitano, Quito, Ecuador
Dorota M NOWAK - Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland
Justyna A KAROLAK - Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland
Publication Details: American journal of medical genetics. Part A, Vol.155(8), pp.1906-1916
Academic Unit: Center for Reproductive Biology; Medical Education and Clinical Science, Department of
Publisher: Wiley-Liss; Chichester
Identifiers: 99900546747501842
Language: English
Resource Type: Journal article

Deletions and Duplications of Developmental Pathway Genes in 5q31 Contribute to Abnormal Phenotypes

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