PHF6 deletions may cause borjeson-forssman-lehmann syndrome in females

Molecular Syndromology

Volumn 1, Issue 6, 2011, Pages 294-300

  Berland, S ^a,b   Alme, K ^a,c   Brendehaug, A ^a   Houge, G ^a,c   Hovland, R ^a,c  

^a HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^b TRONDHEIM UNIVERSITY HOSPITAL   (Norway)

^c UNIVERSITY OF BERGEN   (Norway)

Author keywords

Female; Mental retardation; Oligonucleotide array analysis; PHF6; Pigmentation disorders; Syndactyly; X chromosome inactivation

Indexed keywords

FILAMIN A;

ADOLESCENT; ARTICLE; BORJESON FORSSMAN LEHMANN SYNDROME; CASE REPORT; FEMALE; GENE; GENE DELETION; HEARING LOSS; HUMAN; MENTAL DEFICIENCY; PHENOTYPE; PHF6 GENE; PRIORITY JOURNAL; SKIN PIGMENTATION; SYNDROME; TOOTH MALFORMATION;

EID: 80053194516     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000330111     Document Type: Article

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