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

Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1.

Annals of laboratory medicine - 1 Nov 2017

Park Hae Yeon, Kim Myungshin, Jang Woori, Jang Dae Hyun

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to Child
Share to Chromosomes, Human, Pair 1
Share to Comparative Genomic Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA-Binding Proteins

Share to Gene Deletion

Share to Magnetic Resonance Imaging

Share to Muscle Hypotonia

Source

Open in PubMed Open full text

Identifiers

PMID: 28841002
DOI: 10.3343/alm.2017.37.6.563
PMCID: PMC5587837

Genes

AHDC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1.PMID 28841002Read ↗

Mild phenotype in a patient with a de-novo 2.9-Mb interstitial deletion at 13q12.11.Semantic proximity Read ↗

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1ASemantic proximity Read ↗

Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.Semantic proximity Read ↗

190-kb duplication in 1p36.11 including PIGV and ARID1A genes in a girl with intellectual disability and hexadactyly.Semantic proximity Read ↗

A report of a new case of an interstitial deletion at 3p25.3 and expansion of the clinical phenotype.Semantic proximity Read ↗

A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi–Goutiéres syndrome associated with mtDNA deletionsSemantic proximity Read ↗

Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.Semantic proximity Read ↗

First reported cases with Xia-Gibbs syndrome from India harboring novel variants in AHDC1.Semantic proximity Read ↗

Expanding the Phenotypic Spectrum of CACNA1H MutationsSemantic proximity Read ↗

A review of 18p deletions.Semantic proximity Read ↗

Bi-allelic FRA10AC1 variants in a multisystem human syndrome.Semantic proximity Read ↗

[SAC1 and SAC2: disease loci, gene defect, and clinical phenotypes].Semantic proximity Read ↗

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