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...

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Vydáno v:Cold Spring Harb Mol Case Stud
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Cold Spring Harbor Laboratory Press 2018
Témata:
Rapid Communication
On-line přístup: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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