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

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF

8 May 2019

Abstract excerpt

The myelin regulatory factor gene (MYRF) encodes a transcription factor that is widely expressed. There is increasing evidence that heterozygous loss-of-function variants in MYRF can lead to abnormal development of the heart, genitourinary tract, diaphragm, and lungs. Here, we searched a clinical database containing the results of 12,000 exome sequencing studies. We identified three previously unreported males...

Read the complete abstract on PubMed

Topics

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

Share to Congenital Diaphragmatic Hernia Studies
Share to Neurogenetic and Muscular Disorders Research
Share to RNA modifications and cancer

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 31069960
DOI: 10.1002/ajmg.a.61182

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

Review of the phenotypic spectrum associated with haploinsufficiency of MYRFPMID 31069960Read ↗

De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.Semantic proximity Read ↗

MYRF Variants in Patients With 46,XY Differences/Disorders of Sex Development and Literature Review.Semantic proximity Read ↗

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disordersSemantic proximity Read ↗

Genetic analysis of <i>de novo</i> variants reveals sex differences in complex and isolated congenital diaphragmatic hernia and indicates <i>MYRF</i> as a candidate geneSemantic proximity Read ↗

Diverse clinical manifestations and intrafamilial variability due to an inherited recurrent MYRF variantSemantic proximity Read ↗

MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.Semantic proximity Read ↗

Functional mechanisms of MYRF DNA-binding domain mutations implicated in birth defects.Semantic proximity Read ↗

MYRF is Essential for Epicardial DevelopmentSemantic proximity Read ↗

Splicing variants in MYRF cause partial loss of function in the retinal pigment epitheliumSemantic proximity Read ↗

Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.Semantic proximity Read ↗

Meier-Gorlin Syndrome: Clinical Misdiagnosis as Jeune Syndrome, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal TestSemantic proximity Read ↗

Increased burden ofde novopredicted deleterious variants in complex congenital diaphragmatic herniaSemantic proximity Read ↗

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