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
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| Description | scientific article |
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author: Anna Sowinska-Seidler Magdalena Socha Kazimierz Kozłowski Anna Materna-Kiryluk Anna Latos-Bieleńska Tomasz Trzeciak Ewelina Bukowska-Olech Aleksander Jamsheer |
| Publication date | January 14, 2016 |
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