Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report

Here, we report a newborn female infant from the well-baby cohort of the BabySeq Project who was identified with compound heterozygous BTD gene variants. The two identified variants included a well-established pathogenic variant (c.1612C>T, p.Arg538Cys) that causes profound biotinidase deficiency...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Cold Spring Harb Mol Case Stud
Prif Awduron: Murry, Jaclyn B., Machini, Kalotina, Ceyhan-Birsoy, Ozge, Kritzer, Amy, Krier, Joel B., Lebo, Matthew S., Fayer, Shawn, Genetti, Casie A., VanNoy, Grace E., Yu, Timothy W., Agrawal, Pankaj B., Parad, Richard B., Holm, Ingrid A., McGuire, Amy L., Green, Robert C., Beggs, Alan H., Rehm, Heidi L.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Cold Spring Harbor Laboratory Press 2018
Pynciau:
Rapid Communication
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6071571/
https://ncbi.nlm.nih.gov/pubmed/29728376
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a002873
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