Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors

American Journal of Human Genetics

Volumn 89, Issue 2, 2011, Pages 231-240

  Bae, Gyu Un ^a,b,d   Domené, Sabina ^c,e   Roessler, Erich ^c   Schachter, Karen ^a,f   Kang, Jong Sun ^b   Muenke, Maximilian ^c   Krauss, Robert S ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b Sungkyunkwan University School of Medicine   (South Korea)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d Sookmyung Women's University   (South Korea)

^e INSTITUTO DE INVESTIGACIONES EN INGENIERÍA GENÉTICA Y BIOLOGÍA MOLECULAR   (Argentina)

^f LUND UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN PATCHED 1; SONIC HEDGEHOG PROTEIN;

ANIMAL CELL; ARTICLE; CDON GENE; EMBRYO; GENE; GENE EXPRESSION; HOLOPROSENCEPHALY; HUMAN; MISSENSE MUTATION; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ANIMALS; CELL ADHESION MOLECULES; CELL CYCLE PROTEINS; CELL LINE; GENE EXPRESSION REGULATION; GPI-LINKED PROTEINS; HEDGEHOG PROTEINS; HOLOPROSENCEPHALY; HUMANS; MICE; MUTATION; PROTEIN BINDING; RECEPTORS, CELL SURFACE; REPETITIVE SEQUENCES, AMINO ACID; TUMOR SUPPRESSOR PROTEINS;

ERINACEIDAE;

EID: 80051665525     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.07.001     Document Type: Article

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