Clinical expression of Menkes disease in a girl with X;13 translocation

American Journal of Medical Genetics

Volumn 87, Issue 4, 1999, Pages 354-359

  Abusaad, Iman ^a,b   Mohammed, Shehla N ^a   Ogilvie, Caroline Mackie ^a   Ritchie, Jane ^c   Pohl, Keith R E ^a   Docherty, Zoe ^a  

^a GUY S HOSPITAL   (United Kingdom)

^b KING'S COLLEGE LONDON   (United Kingdom)

^c MAIDSTONE HOSPITAL   (United Kingdom)

Author keywords

Copper metabolism; Kinky hair; Menkes disease; T(X; 13); Translocation

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME TRANSLOCATION 13; CHROMOSOME TRANSLOCATION X; CLINICAL FEATURE; CONNECTIVE TISSUE DISEASE; COPPER METABOLISM; DEGENERATIVE DISEASE; DISEASE COURSE; FEMALE; HUMAN; HUMAN TISSUE; KINKY HAIR; MENKES SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; X CHROMOSOME RECESSIVE DISORDER;

ADENOSINE TRIPHOSPHATASES; CARRIER PROTEINS; CATION TRANSPORT PROTEINS; CHROMOSOMES, HUMAN, PAIR 13; DIAGNOSIS, DIFFERENTIAL; FATAL OUTCOME; FEMALE; HAIR; HEPATOLENTICULAR DEGENERATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MENKES KINKY HAIR SYNDROME; RECOMBINANT FUSION PROTEINS; TRANSLOCATION, GENETIC; X CHROMOSOME;

EID: 0032748825     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19991203)87:4<354::AID-AJMG14>3.0.CO;2-Y     Document Type: Article

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