De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype

Clinical Genetics

Volumn 87, Issue 1, 2015, Pages 34-41

  Roifman, M ^a,b   Marcelis, C L M ^c   Paton, T ^d   Marshall, C ^d   Silver, R ^a   Lohr, J L ^e   Yntema, H G ^c   Venselaar, H ^c   Kayserili, H ^f   van Bon, B ^c   Seaward, G ^a   Brunner, H G ^c   Chitayat, D ^a,b  

^a MOUNT SINAI HOSPITAL   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^f ISTANBUL UNIVERSITY   (Turkey)

Author keywords

Autosomal dominant; Robinow syndrome; Skeletal dysplasia; WNT5A

Indexed keywords

ADULT; ANTERIOR FONTANEL; ANTEVERTED NOSTRIL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT ROBINOW SYNDROME; BIRTH WEIGHT; BONE DYSPLASIA; BRACHYDACTYLY; BREECH PRESENTATION; CASE REPORT; CHILD; CRYPTORCHISM; DECIDUOUS TOOTH; ECHOCARDIOGRAPHY; EPICANTHUS; EXOME; FACE DYSMORPHIA; FACIES; FEMALE; FETUS ECHOGRAPHY; FOLLOW UP; FRONTAL BOSSING; GENE INTERACTION; GENE SEQUENCE; GENOTYPE; GESTATION PERIOD; GINGIVA HYPERTROPHY; HEAD CIRCUMFERENCE; HUMAN; HYPERTELORISM; HYPOPLASIA; LOW SET EAR; MACROSTOMIA; MALE; MICROGNATHIA; MICROPENIS; MISSENSE MUTATION; NEVUS FLAMMEUS; OPITZ SYNDROME; ORCHIDOPEXY; PHENOTYPE; PRENATAL GROWTH; PRIMIGRAVIDA; PRIORITY JOURNAL; PROTEIN FOLDING; ROBINOW SYNDROME; WNT SIGNALING PATHWAY; CHEMICAL STRUCTURE; CHEMISTRY; CRANIOFACIAL MALFORMATION; DNA SEQUENCE; DWARFISM; GENE FREQUENCY; GENETICS; LIMB MALFORMATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; UROGENITAL TRACT MALFORMATION;

ONCOPROTEIN; WNT PROTEIN; WNT5A PROTEIN, HUMAN;

BASE SEQUENCE; CRANIOFACIAL ABNORMALITIES; DWARFISM; EXOME; GENE FREQUENCY; GENOTYPE; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; PROTO-ONCOGENE PROTEINS; SEQUENCE ANALYSIS, DNA; UROGENITAL ABNORMALITIES; WNT PROTEINS;

EID: 84919341465     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12401     Document Type: Article

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