Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene
published in: Journal of Human Genetics
date of publication: 2016-01-14
main subject: brachydactyly type E1, heterozygosity
Cites articles 11
- 2004-04-01
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Article - wd:Q40111068