Associated Papers
Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis.
Iwai M et al.
European Journal of Human Genetics : Ejhg, 2026
41162587 (PubMed )
Supplement: 41431_2025_1973_MOESM1_ESM.pdf
Novel somatic PBX1 mosaicism likely masking syndromic CAKUT in an adult with bilateral kidney hypoplasia.
Petzold F et al.
Clinical Kidney Journal, 2022
A New Pathogenic Variant of CAKUTHED Diagnosed Based on Intellectual Disability.
Morichi S et al.
Indian Journal of Pediatrics, 2020
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