Further delineation of Frank-ter Haar syndrome

American Journal of Medical Genetics

Volumn 131 A, Issue 2, 2004, Pages 127-133

  Maas, Saskia M ^a   Kayserili, Hulya ^b   Lam, Jan ^a   Apak, Memnune Y ^b   Hennekam, Raoul C M ^a,c  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b ISTANBUL UNIVERSITY   (Turkey)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Autosomal recessive; Congenital glaucoma; Filamin A; Frank ter Haar syndrome; Gall stones; Hypertelorism; Kyphosis; Mitral valve insufficiency; Skeletal dysplasia; Ter Haar syndrome

Indexed keywords

FILAMIN;

ANTERIOR FONTANEL; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BONE BOWING; BONE DYSPLASIA; BRACHYCEPHALY; CAMPTODACTYLY; CASE REPORT; COCCYGEAL BONE; CONGENITAL GLAUCOMA; CORNEA DISEASE; DEVELOPMENTAL DISORDER; FEMALE; FOREHEAD; FRANK TER HAAR SYNDROME; GALLSTONE; HEART FAILURE; HEART VENTRICLE SEPTUM DEFECT; HIRSUTISM; HUMAN; HYPERTELORISM; KYPHOSIS; MALE; MEGALOCORNEA; MITRAL VALVE REGURGITATION; PAPILLOMATOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMINENT EAR; SKELETON MALFORMATION; SYNDROME; TURKEY (REPUBLIC); VALVULAR HEART DISEASE;

ABNORMALITIES, MULTIPLE; BONE AND BONES; CARDIOVASCULAR ABNORMALITIES; CORNEA; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; SYNDROME; TURKEY;

EID: 9644302730     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30244     Document Type: Article

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