Re: 3C (Ritscher-Schinzel) syndrome: The importance of ruling out a terminal 6p deletion [1]

Clinical Dysmorphology

Volumn 14, Issue 4, 2005, Pages 209-210

  Innes, A Micheil ^a  

^a ALBERTA CHILDREN'S HOSPITAL   (Canada)

Author keywords

3C syndrome; 6p deletion; Dandy Walker malformation; Posterior embryotoxon; Ritscher Schinzel syndrome

Indexed keywords

AUTOSOMAL RECESSIVE INHERITANCE; BRAIN MALFORMATION; CHROMOSOME 6; CHROMOSOME DELETION; CONGENITAL HEART MALFORMATION; CRYPTORCHISM; DANDY WALKER SYNDROME; GENETIC PREDISPOSITION; GENETIC SCREENING; HUMAN; KARYOTYPING; LETTER; MULTIPLE MALFORMATION SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SKULL DEFECT; TELOMERE;

ABNORMALITIES, MULTIPLE; CEREBELLUM; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; CORNEA; CRANIOFACIAL ABNORMALITIES; CRYPTORCHIDISM; HEART DEFECTS, CONGENITAL; HUMANS; INFANT, NEWBORN; KARYOTYPING; MALE; SYNDROME;

EID: 25844529402     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200510000-00009     Document Type: Letter

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