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

Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome.

Human genetics - 1 Jun 2024

AlAbdi Lama, Neuhann Teresa, Prott Eva-Christina, Schön Ulrike, Abdulwahab Firdous, Faqeih Eissa, Alkuraya Fowzan S

Abstract excerpt

Germline gain of function variants in the oncogene ABL1 cause congenital heart defects and skeletal malformations (CHDSKM) syndrome. Whether a corresponding ABL1 deficiency disorder exists in humans remains unknown although developmental defects in mice deficient for Abl1 support this notion. Here, we describe two multiplex consanguineous families, each segregating a different homozygous likely loss of function...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Germ-Line Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Defects, Congenital

Share to Pedigree

Share to Phenotype

Share to Proto-Oncogene Proteins c-abl

Share to Syndrome

Source

Identifiers

PMID: 38743093
DOI: 10.1007/s00439-024-02677-y

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome.PMID 38743093Read ↗

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformationsSemantic proximity Read ↗

A Novel Missense Mutation of the ABL1 Gene in a Child With Congenital Heart Defects and Skeletal Malformations Syndrome.Semantic proximity Read ↗

The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome.Semantic proximity Read ↗

Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity.Semantic proximity Read ↗

Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases.Semantic proximity Read ↗

A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.Semantic proximity Read ↗

The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart diseaseSemantic proximity Read ↗

Using human sequencing to guide craniofacial researchSemantic proximity Read ↗

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.Semantic proximity Read ↗

Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome.Semantic proximity Read ↗

Mutations in NOTCH1 cause Adams-Oliver syndrome.Semantic proximity Read ↗

Human HOX gene disorders.Semantic proximity Read ↗

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