Report of two unrelated patients with hereditary vitamin D resistant rickets due to the same novel mutation in the vitamin D receptor

Genetic Disorders and Defects in Vitamin D Action

(2010) Peter J. Malloy et al.   ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA

The presence of a polymorphism at the translation initiation site of the vitamin D receptor gene is associated with low bone mineral density in postmenopausal mexican-American women

(2010) Coleman Gross et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene

(2010) Nikta Forghani et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Hereditary vitamin D resistant rickets: Identification of a novel splice site mutation in the vitamin D receptor gene and successful treatment with oral calcium therapy

(2009) Nina S. Ma et al.   BONE

Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor

(2009) Peter J. Malloy et al.   MOLECULAR GENETICS AND METABOLISM

Compound Heterozygous Mutations in the Vitamin D Receptor in a Patient With Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets With Alopecia

(2008) Yulin Zhou et al.   JOURNAL OF BONE AND MINERAL RESEARCH