COFS syndrome with familial 1;16 translocation

Clinical Genetics

Volumn 50, Issue 4, 1996, Pages 240-243

  Temtamy, S A ^a   Meguid, N A ^a   Mahmoud, A ^a   Afifi, H H ^a   Gerzawy, A ^a   Zaki, M S ^a  

^a NATIONAL RESEARCH CENTRE   (Egypt)

Author keywords

Balanced translocation; Chromosome 1; Chromosome 16; COFS syndrome; Gene mapping; Intracranial calcification

Indexed keywords

ARTICLE; BRAIN CALCIFICATION; CAMPTODACTYLY; CASE REPORT; CHROMOSOME 16Q; CHROMOSOME 1Q; CHROMOSOME ANALYSIS; CHROMOSOME MOSAICISM; CHROMOSOME TRANSLOCATION; COFS SYNDROME; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL CATARACT; EAR MALFORMATION; ELBOW; EXTERNAL EAR MALFORMATION; FEMALE; GENE LOCATION; HEEL; HUMAN; JOINT CONTRACTURE; KNEE; KYPHOSIS; MICROCEPHALY; NYSTAGMUS; PRESCHOOL CHILD; PRIORITY JOURNAL; SKELETON MALFORMATION;

EID: 0030444873     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1996.tb02635.x     Document Type: Article

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