Distinctive Menkes disease variant with occipital horns: Delineation of natural history and clinical phenotype

American Journal of Medical Genetics

Volumn 65, Issue 1, 1996, Pages 44-51

  Proud, Virginia K ^a   Mussell, Holly G ^b,c   Kaler, Stephen G ^d,e   Young, Daniel W ^c   Percy, Alan K ^b  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b UNIVERSITY OF ALABAMA SCHOOL OF MEDICINE   (United States)

^c CHILDREN S HOSPITAL OF ALABAMA   (United States)

^d NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^e GEORGE WASHINGTON UNIVERSITY   (United States)

Author keywords

copper transport; cutis laxa; dopamine hydroxylase; Menkes disease; occipital horn syndrome; pili torti; plasma catechol levels

Indexed keywords

CATECHOLAMINE; CERULOPLASMIN; COPPER; DOPAMINE BETA MONOOXYGENASE; GENE PRODUCT;

ADULT; ARTICLE; BLADDER DIVERTICULUM; CASE REPORT; CHILD; COPPER METABOLISM; CUTIS LAXA; EXOSTOSIS; FAILURE TO THRIVE; HUMAN; JOINT DISLOCATION; MALE; MENKES SYNDROME; MENTAL RETARDATION MALFORMATION SYNDROME; MUSCLE HYPOTONIA; PHENOTYPE; PRIORITY JOURNAL; SEIZURE; X CHROMOSOME RECESSIVE DISORDER;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; EHLERS-DANLOS SYNDROME; EXOSTOSES; HUMANS; INFANT; MALE; MENKES KINKY HAIR SYNDROME; OCCIPITAL BONE; PEDIGREE; PHENOTYPE;

GENETTA;

EID: 0029792846     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961002)65:1<44::AID-AJMG7>3.0.CO;2-Y     Document Type: Article

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