Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Apr 2017

Andary Rabih, El-Hage-Sleiman Abdul-Karim, Farhat Theresa, Sanjad Sami, Nemer Georges

Abstract excerpt

BACKGROUND: Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene. Variable phenotypes have been associated with these mutations, and some of these were linked to the effects they have on the interacting partners of VDR, mainly the retinoic X receptor (RXR). METHODS: We examined four patients with HVDRR from three unrelated...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to Familial Hypophosphatemic Rickets

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Follow-Up Studies

Share to Homozygote

Share to Infant

Share to Lebanon

Share to Pedigree

Share to Receptors, Calcitriol

Source

Identifiers

PMID: 28301319
DOI: 10.1515/jpem-2016-0338

Genes

VDR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes.PMID 28301319Read ↗

Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene.Semantic proximity Read ↗

Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation.Semantic proximity Read ↗

Hereditary 1,25-dihydroxyvitamin D resistant rickets due to a mutation causing multiple defects in vitamin D receptor function.Semantic proximity Read ↗

Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia.Semantic proximity Read ↗

Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor.Semantic proximity Read ↗

A novel inborn error in the ligand-binding domain of the vitamin D receptor causes hereditary vitamin D-resistant rickets.Semantic proximity Read ↗

Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese.Semantic proximity Read ↗

Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.Semantic proximity Read ↗

Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome.Semantic proximity Read ↗

Clinical characteristics and long-term management for patients with vitamin D-dependent rickets type II: a retrospective study at a single center in Saudi Arabia.Semantic proximity Read ↗

Compound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia.Semantic proximity Read ↗

Phenotypes and Genotypes of Children with Vitamin D-Dependent Rickets Type 1A: A Single Tertiary Pediatric Center in VietnamSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.