Heterozygous Mutations in MAP3K7 , Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome

Novel compound heterozygous mutations of DOCK2 associated with early-onset recurrent infections
Zhi Yang, Linlin Wang, Yang Wang +5
Frontiers in Immunology26 Oct 2026Peer-reviewedCC BY 4.0Full textImmunologyCrossrefDOAJ
Loeys-Dietz syndrome with autoimmune polyendocrine syndrome type 4 and immune dysregulation associated with a heterozygous CD3G splice-site variant in a child: a case report.
Fikir M Adinew, M Loredana Marcovecchio
BMC endocrine disorders5 Aug 2026Peer-reviewedCC BY-NC-NDFull textImmunologyEurope PMCPMC
Heterozygous TREX1 variants in a neonate with Aicardi-Goutières syndrome type 1: a case report
Jie Luo, Xiaojiao Wang, Ying Liu +3
Open life sciences2 Nov 2026Peer-reviewedCC BYFull textImmunologyEurope PMCPMC
Hyperphosphatasia With Intellectual Disability (Mabry Syndrome) due to Compound Heterozygous PIGO Variants: First Molecularly Characterized Case in French Guiana: A Case Report and Review of the Literature.
Mody Diop, Joddy Mafema Missindu, Narcisse Elenga
Case reports in genetics19 Oct 2026Peer-reviewedCC BYFull textGenetics & genomicsEurope PMC
Novel Compound Heterozygous RECQL4 Pathogenic Variants and Associated Phenotypes in a Chinese Patient With Rothmund-Thomson Syndrome: Case Report and Literature Review.
Yuanyuan Wang, Lulu Li, Chunjiao Zheng +2
Molecular genetics & genomic medicine1 Oct 2026Peer-reviewedCC BY-NC-NDFull textGenetics & genomicsEurope PMC

Cite

BibTeX

@article{goff2026heterozygous,
  title = {{Heterozygous Mutations in MAP3K7 , Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome}},
  author = {Carine Le Goff and Curtis Rogers and Wilfried Le Goff and Graziella Pinto and Damien Bonnet and Maya Chrabieh and Olivier Alibeu and Patrick Nistchke and Arnold Munnich and Capucine Picard and Valérie Cormier-Daire},
  journal = {American Journal of Human Genetics},
  year = {2026},
  month = oct,
  doi = {10.1016/j.ajhg.2016.06.005},
  url = {https://hal.science/hal-05794964v1},
}

RIS

TY  - JOUR
TI  - Heterozygous Mutations in MAP3K7 , Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome
AU  - Carine Le Goff
AU  - Curtis Rogers
AU  - Wilfried Le Goff
AU  - Graziella Pinto
AU  - Damien Bonnet
AU  - Maya Chrabieh
AU  - Olivier Alibeu
AU  - Patrick Nistchke
AU  - Arnold Munnich
AU  - Capucine Picard
AU  - Valérie Cormier-Daire
PY  - 2026
DA  - 2026/10/12
JO  - American Journal of Human Genetics
DO  - 10.1016/j.ajhg.2016.06.005
UR  - https://hal.science/hal-05794964v1
SN  - 0002-9297
SN  - 1537-6605
ER  -

Related

Cite