Heterozygous Mutations in Both the AMN and CBS Genes: Double Haploinsufficiency as an Unusual Cause of Vitamin B12 Deficiency—A Case Report.

Autor:	Iversen, Per Ole, Gueant, Jean‐Louis, Oussalah, Abderrahim, Refsum, Helga, Nexo, Ebba, Tjønnfjord, Geir E., Qvigstad, Christian
Zdroj:	Clinical Case Reports; Nov2024, Vol. 12 Issue 11, p1-5, 5p
Abstrakt:	Vitamin B12 deficiency is usually simple to diagnose. However, our patient demonstrates that in difficult cases, the ordinary clinician may need a transdisciplinary approach. The finding of a double haploinsufficiency as a possible cause of vitamin B12 deficiency in our patient, illustrates the usefulness of performing large panel clinical exome sequencing. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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