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

Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty

27 Jan 2017

Abstract excerpt

Context: Central precocious puberty (CPP) results from premature activation of the hypothalamic-pituitary-gonadal axis. Few genetic causes of CPP have been identified, with the most common being mutations in the paternally expressed imprinted gene MKRN3. Objective: To identify the genetic etiology of CPP in a large multigenerational family. Design: Linkage analysis followed by whole-genome sequencing was...

Read the complete abstract on PubMed

Topics

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

Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Share to Genetic Syndromes and Imprinting
Share to Hypothalamic control of reproductive hormones

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 28324015
DOI: 10.1210/jc.2016-3677

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious PubertyPMID 28324015Read ↗

A new DLK1 defect in a family with idiopathic central precocious puberty: elucidation of the male phenotype.Semantic proximity Read ↗

Clinical and Genetic Characterization of Familial Central Precocious Puberty.Semantic proximity Read ↗

DLK1, Notch Signaling and the Timing of PubertySemantic proximity Read ↗

Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels.Semantic proximity Read ↗

Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination.Semantic proximity Read ↗

Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty.Semantic proximity Read ↗

Molecular Screening of MKRN3, DLK1, and KCNK9 Genes in Girls with Idiopathic Central Precocious Puberty.Semantic proximity Read ↗

Predicting MKRN3 and DLK1 Variants Using Serum Levels in Precocious PubertySemantic proximity Read ↗

Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty.Semantic proximity Read ↗

Comprehensive Study on Central Precocious Puberty: Molecular and Clinical Analyses in 90 PatientsSemantic proximity Read ↗

GENETICS IN ENDOCRINOLOGY: Genetic etiologies of central precocious puberty and the role of imprinted genes.Semantic proximity Read ↗

Central Precocious Puberty Caused by Mutations in the Imprinted Gene <i>MKRN3</i>Semantic proximity Read ↗

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