Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the
DLX5
DLX6
DYNC1I1
SHFM
TADs
ectrodactyly
imprinting
regulatory elements
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
26 07 2023
26 07 2023
Historique:
received:
30
06
2023
revised:
19
07
2023
accepted:
24
07
2023
medline:
28
8
2023
pubmed:
26
8
2023
entrez:
26
8
2023
Statut:
epublish
Résumé
Split Hand-Foot Malformation (SHFM) is a congenital limb defect characterized by a median cleft of the hands and/or feet due to the absence/hypoplasia of the central rays. It may occur as part of a syndromic condition or as an isolated malformation. The most common of the six genetic loci identified for this condition is correlated to SHFM1 and maps in the 7q21q22 region. SHFM1 is characterized by autosomal dominant transmission, incomplete penetrance and variable expressivity. Associated features often include hearing loss, intellectual disability/developmental delay and craniofacial abnormalities. Disruption of the
Identifiants
pubmed: 37628577
pii: genes14081526
doi: 10.3390/genes14081526
pmc: PMC10454356
pii:
doi:
Substances chimiques
DLX5 protein, human
0
Transcription Factors
0
Homeodomain Proteins
0
Types de publication
Review
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Références
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