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Article

Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants.

American journal of medical genetics. Part A - 1 Jun 2018

Ungar Rachel A, Giri Neelam, Pao Maryland, Khincha Payal P, Zhou Weiyin, Alter Blanche P, Savage Sharon A

Abstract excerpt

Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome caused by germline mutations in telomere biology genes. Patients have extremely short telomeres for their age and a complex phenotype including oral leukoplakia, abnormal skin pigmentation, and dysplastic nails in addition to bone marrow failure, pulmonary fibrosis, stenosis of the esophagus, lacrimal ducts and urethra, developmental...

Topics

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Diabetes Mellitus, Type 1
DNA Helicases
Dyskeratosis Congenita
Homozygote
Hypothyroidism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Tryptophan Hydroxylase

Whole Genome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 29696773
DOI: 10.1002/ajmg.a.38706
PMCID: PMC5992073

Genes

LRP4
RTEL1
SPTBN5
TPH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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