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pro vyhledávání: '"Aaron W. James"'
Publikováno v:
American journal of medical genetics. Part A. (10)
Karyotypic discordance between different tissues in an individual is uncommon. We report on a patient with multiple congenital anomalies and mosaicism for monosomy 13 limited to fibroblasts. Findings include microcephaly, agenesis of the corpus callo
Publikováno v:
American journal of medical genetics. Part A. (17)
Infants born to diabetic mothers (IDM) are well documented to have a higher rate of congenital malformations. Sacral agenesis/hypogenesis and caudal dysgenesis are classically linked to maternal diabetes, but many other types of anomalies are more fr