Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1

European Journal of Human Genetics

Volumn 13, Issue 11, 2005, Pages 1169-1171

  Koolen, David A ^a   Knoers, Nine V A M ^a   Nillesen, Willy M ^a   Slabbers, Gordon H P R ^b   Smeets, Dominique ^a   de Leeuw, Nicole ^a   Sistermans, Erik A ^a   de Vries, Bert B A ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b BERNHOVEN HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXC1; UNCLASSIFIED DRUG; FORKHEAD TRANSCRIPTION FACTOR;

ANTERIOR EYE CHAMBER; CASE REPORT; CHROMOSOME 6P; CHROMOSOME DELETION; CLINICAL FEATURE; CONVERGENT STRABISMUS; FACE DYSMORPHIA; FAMILY HISTORY; FEMALE; HUMAN; HYPERMETROPIA; IRIS DISEASE; LETTER; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; PARTIAL IRIS HYPOPLASIA; PATIENT REFERRAL; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; STRABISMUS; VISUAL SYSTEM EXAMINATION; CHROMOSOME 6; CHROMOSOME MAP; CONGENITAL MALFORMATION; GENETICS; INFANT; IRIS; MULTIPLE MALFORMATION SYNDROME; NOTE; TELOMERE;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; INFANT; IRIS; PHYSICAL CHROMOSOME MAPPING; TELOMERE;

EID: 33644802534     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201487     Document Type: Letter

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