Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: Evidence of different genetic mechanisms involved in the production of the disease

Journal of Medical Genetics

Volumn 35, Issue 12, 1998, Pages 1014-1019

  López Gutiérrez, Antonio Ulises ^a   Riba, Laura ^a   Ordoñez Sánchez, Maria Luisa ^a   Ramirez Jiménez, Salvador ^a   Cerrillo Hinojosa, Mabel ^b   Tusié Luna, Maria Teresa ^a,c  

^a UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

^b HOSPITAL ÁNGELES DEL PEDREGAL   (Mexico)

^c INSTITUTO NACIONAL DE PEDIATRÍA   (Mexico)

Author keywords

Congenital adrenal hyperplasia; Germline mutations; Isodisomy; Non mendelian inheritance

Indexed keywords

STEROID 21 MONOOXYGENASE;

ARTICLE; CHILD; CHROMOSOME 6P; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; DNA FINGERPRINTING; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENETIC MARKER; GENOME IMPRINTING; HLA SYSTEM; HUMAN; HUMAN CELL; MALE; MEXICO; NEWBORN; PRIORITY JOURNAL; RECESSIVE INHERITANCE; STEROIDOGENESIS; UNIPARENTAL DISOMY;

EID: 0031759339     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.12.1014     Document Type: Article

References (12)

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