Associated Papers
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Tooze RS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
37154149 (PubMed )
Supplement: mmc2.pdf
Genomic and transcriptional characterization of early esophageal squamous cell carcinoma.
Zhao J et al.
Bmc Medical Genomics, 2023
A novel mutation of HOXA11 in a patient with septate uterus.
Zhu Y et al.
Orphanet Journal of Rare Diseases, 2017
A missense mutation of HOXA13 underlies hand-foot-genital syndrome in a Chinese family.
Cao L et al.
Journal of Genetics, 2017
7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype.
Yokoyama E et al.
Molecular Cytogenetics, 2017
Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1.
Wallis M et al.
American Journal of Medical Genetics. Part A, 2016
Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation.
Imagawa E et al.
American Journal of Medical Genetics. Part A, 2014
Homeodomain revisited: a lesson from disease-causing mutations.
Chi YI
Human Genetics, 2005
A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome.
Frisén L et al.
Journal of Medical Genetics, 2003
A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?
Utsch B et al.
Human Genetics, 2002
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