Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X)(pter→q24::q21.32→qter) and random X inactivation

American Journal of Medical Genetics

Volumn 72, Issue 3, 1997, Pages 329-334

  Carrozzo, Romeo ^a   Arrigo, Giulia ^a,b   Rossi, Elena ^a,b   Bardoni, Barbara ^b   Cammarata, Marina ^c   Gandullia, Paolo ^d   Gatti, Rosanna ^d   Zuffardi, Orsetta ^a,b,e  

^a SAN RAFFAELE HOSPITAL   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c UNIVERSITY OF PALERMO   (Italy)

^d G GASLINI INSTITUTE   (Italy)

^e Biologia Generale e Genetica Medica   (Italy)

Author keywords

Hypomyelination; Multiple congenital anomalies; Pelizaeus Merzbacher disease; PLP gene; X inactivation; Xq duplication

Indexed keywords

ARTICLE; CASE REPORT; CYTOGENETICS; DISEASE ASSOCIATION; FEMALE; GENE DUPLICATION; HUMAN; KARYOTYPE; MENTAL DEFICIENCY; METHYLATION; MYELINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OCULAR ALBINISM; PRIORITY JOURNAL; X CHROMOSOME INACTIVATION;

ABNORMALITIES, MULTIPLE; ADULT; ALBINISM, OCULAR; BRAIN; CHROMOSOME MAPPING; DOSAGE COMPENSATION, GENETIC; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MULTIGENE FAMILY; MYELIN SHEATH; SEX CHROMOSOME ABERRATIONS; X CHROMOSOME;

EID: 0030756572     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971031)72:3<329::AID-AJMG15>3.0.CO;2-V     Document Type: Article

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