M
Mauricio A. Delgado
Publications - 1
Citations - 176
Mauricio A. Delgado is an academic researcher. The author has contributed to research in topics: Trinucleotide repeat expansion & Somatic recombination. The author has an hindex of 1, co-authored 1 publications receiving 172 citations.
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Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination
Lucia Y. Brown,Sylvie Odent,Véronique David,Martine Blayau,Christèle Dubourg,Can Apacik,Mauricio A. Delgado,Bryan D. Hall,James F. Reynolds,Annemarie Sommer,Dagmar Wieczorek,Stephen Brown,Maximilian Muenke +12 more
TL;DR: The prevalence of mutations in the zinc finger transcription factor gene, ZIC2, in a group of 509 unrelated individuals with isolated holoprosencephaly (HPE) and normal chromosomes supports the idea that Z IC2 haploinsufficiency can result in HPE.