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

Human Genetics

Volumn 127, Issue 4, 2010, Pages 421-440

  Rosenfeld, Jill A ^a   Ballif, Blake C ^a   Martin, Donna M ^b   Aylsworth, Arthur S ^c   Bejjani, Bassem A ^a   Torchia, Beth S ^a   Shaffer, Lisa G ^a  

^a PerkinElmer   (United States)

^b UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^c UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN 4; BRAIN PROTEIN; DICKKOPF 1 PROTEIN; FIBROBLAST GROWTH FACTOR 8; PROTEIN ACVR2A; PROTEIN CDC42; PROTEIN CDON; PROTEIN CHRD; PROTEIN CTNNB1; PROTEIN DISP1; PROTEIN EAPP; PROTEIN FOXH1; PROTEIN GAS1; PROTEIN HHIP; PROTEIN LRP2; PROTEIN NODAL; PROTEIN PATCHED 1; PROTEIN SNX6; PROTEIN STIL; PROTEIN TCTN1; PROTEIN TDGF1; PROTEIN WIF1; PROTEIN ZIC2; SMOOTHENED PROTEIN; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR GLI2; TRANSCRIPTION FACTOR OTX2; TRANSCRIPTION FACTOR SIX3; UNCLASSIFIED DRUG; UNINDEXED DRUG; WNT8B PROTEIN;

ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; HOLOPROSENCEPHALY; HUMAN; INHERITANCE; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL;

CHROMOSOMES, HUMAN, PAIR 3; COMPARATIVE GENOMIC HYBRIDIZATION; DANDY-WALKER SYNDROME; EYE PROTEINS; FEMALE; FIBROBLAST GROWTH FACTOR 8; GENE DELETION; GENE DUPLICATION; GLYCOGEN SYNTHASE KINASE 3; HAPLOINSUFFICIENCY; HEDGEHOG PROTEINS; HOLOPROSENCEPHALY; HOMEODOMAIN PROTEINS; HUMANS; MALE; MODELS, GENETIC; NERVE TISSUE PROTEINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE;

EID: 77952099052     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-009-0778-7     Document Type: Article

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