Article

Novel Compound Nonsense Variant in the CYP27B1 Cause an Atypical Form of Vitamin D-Dependent Rickets Type 1A: Case Report in Two Siblings in a Mexican Family

2024-09-16

Abstract excerpt

Vitamin D-dependent rickets type 1A (VDDR1A) is a rare autosomal recessive disorder, caused by pathogenic variants in the CYP27B1 gene, typically characterized by growth failure, rickets, leg bowing, fracture, seizures, hyperparathyroidism, hypocalcemia, high alkaline phosphatase, high or normal 25(OH)D3, and low 1,25(OH)2D3. We studied two siblings in a Mexican family with an atypical form of VDDR1A. In addition...

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Literature Corpus work: c01b2dc2-bab6-5255-8254-14a47db98670
DOI: 10.20944/preprints202409.1226.v1

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