Bifid tongue, corneal clouding, and Dandy-Walker malformation in a male infant with otopalatodigital syndrome type 2

American Journal of Medical Genetics, Part A

Volumn 155, Issue 4, 2011, Pages 855-859

  Murphy Ryan, Maureen ^a   Babovic Vuksanovic, Dusica ^b   Lindor, Noralane ^b  

^a MAYO CLINIC COLLEGE OF MEDICINE   (United States)

^b MAYO CLINIC   (United States)

Author keywords

Bifid tongue; Corneal opacity; Dandy Walker malformation; Filamin A; Otopalatodigital syndrome

Indexed keywords

ARTICLE; BIFID TONGUE; BRAIN DISEASE; CASE REPORT; CHD2 GENE; CLEFT PALATE; CLINICAL FEATURE; CONGENITAL MALFORMATION; CORNEA CLOUDING; CORNEA DISEASE; CORNEA OPACITY; DANDY WALKER SYNDROME; DISEASE SEVERITY; DNA SEQUENCE; ECHOGRAPHY; ELBOW MALFORMATION; ENDOCARDIAL CUSHION DEFECT; FLNA GENE; GENE; HEMIZYGOSITY; HUMAN; HYDRAMNIOS; HYPERTELORISM; HYPOXIC ISCHEMIC ENCEPHALOPATHY; INFANT; KNEE MALFORMATION; MALE; MICROGNATHIA; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; OMPHALOCELE; OTOPALATODIGITAL SYNDROME TYPE 2; PALLIATIVE THERAPY; PRIORITY JOURNAL; SMALL INTESTINE OBSTRUCTION; SYSTOLIC HEART MURMUR; TONGUE DISEASE; TRICUSPID VALVE REGURGITATION;

AMINO ACID SUBSTITUTION; BRAIN; CONTRACTILE PROTEINS; CORNEAL OPACITY; CRANIOFACIAL ABNORMALITIES; DANDY-WALKER SYNDROME; HAND DEFORMITIES, CONGENITAL; HUMANS; INFANT, NEWBORN; MALE; MICROFILAMENT PROTEINS; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; TONGUE, FISSURED;

EID: 79953299681     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33901     Document Type: Article

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