Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy

American Journal of Medical Genetics

Volumn 61, Issue 4, 1996, Pages 377-381

  Pellegrino, Joan E ^a,b   Pellegrino, Louis ^a   Spinner, Nancy B ^a   Sladky, John ^a   Chance, Phillip F ^a   Zackai, Elaine H ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

Charcot Marie Tooth neuropathy type 1A; developmental disability; dup(17p); gene dosage; monosomy 10q; PMP 22 gene

Indexed keywords

MYELIN PROTEIN;

ADULT; AMNIOCENTESIS; ARTICLE; CASE REPORT; DEMYELINATION; DISEASE ASSOCIATION; ECHOCARDIOGRAPHY; FEMALE; GENE TRANSLOCATION; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INFANT; MONOSOMY; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; ADULT; CHARCOT-MARIE-TOOTH DISEASE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 17; CYTOGENETICS; DEVELOPMENTAL DISABILITIES; FEMALE; HUMANS; MALE; MONOSOMY;

EID: 0030064551     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960202)61:4<377::AID-AJMG13>3.0.CO;2-P     Document Type: Article

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