Brachydactyly type E2
Brachydactyly type E2 is an autosomal dominant disorder caused by mutations of the PTHLH gene. Patients exhibit a short stature and some skeletal abnormalities. Hands and feet show short metatarsals (III-V), and dentation is delayed and sometimes accompanied by oligodontia.
Maass PG et al. (2010) A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E.[^]
Klopocki E et al. (2010) Deletion and point mutations of PTHLH cause brachydactyly type E.[^]
OMIM.ORG articleOmim 613382 [^]