WNT5A mutations in patients with autosomal dominant Robinow syndrome

Developmental Dynamics

Volumn 239, Issue 1, 2010, Pages 327-337

  Person, Anthony D ^a,b   Beiraghi, Soraya ^a   Sieben, Christine M ^a,c   Hermanson, Spencer ^a   Neumann, Ann N ^a,c   Robu, Mara E ^a,b   Schleiffarth, J Robert ^a,c   Billington Jr , Charles J ^c   Van Bokhoven, Hans ^d   Hoogeboom, Jeannette M ^e   Mazzeu, Juliana F ^f   Petryk, Anna ^a,b,c   Schimmenti, Lisa A ^a   Brunner, Han G ^d   Ekker, Stephen C ^a,b,g   Lohr, Jamie L ^a,c  

^a UNIVERSITY OF MINNESOTA   (United States)

^b Minnesota Craniofacial Research Training Program (MinnCResT)   (United States)

^c UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e ERASMUS MEDICAL CENTER   (Netherlands)

^f UNIVERSITY OF SÃO PAULO   (Brazil)

^g MAYO GRADUATE SCHOOL   (United States)

Author keywords

Robinow syndrome; Ror2; Wnt5a

Indexed keywords

CYSTEINE; TYROSINE KINASE RECEPTOR; WNT5A PROTEIN;

AMINO ACID SUBSTITUTION; ANIMAL EXPERIMENT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BONE DEVELOPMENT; CLINICAL FEATURE; CRANIOFACIAL DEVELOPMENT; CRANIOFACIAL MALFORMATION; EMBRYO; GENE MUTATION; GENE OVEREXPRESSION; GENETIC VARIABILITY; HUMAN; HYPOPLASIA; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; ROBINOW SYNDROME; SHORT STATURE; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; XENOPUS; ZEBRA FISH;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; ANIMALS; BONE DISEASES, DEVELOPMENTAL; CHROMOSOME MAPPING; CROSSES, GENETIC; DNA PRIMERS; EMBRYONIC DEVELOPMENT; GENES, DOMINANT; HUMANS; IN SITU HYBRIDIZATION; MICE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PROTO-ONCOGENE PROTEINS; RECEPTOR TYROSINE KINASE-LIKE ORPHAN RECEPTORS; SIGNAL TRANSDUCTION; SYNDROME; WNT PROTEINS; XENOPUS; ZEBRAFISH;

DANIO RERIO;

EID: 73949122296     PISSN: 10588388     EISSN: 10970177     Source Type: Journal    
DOI: 10.1002/dvdy.22156     Document Type: Article

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