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searching for Campomelic dysplasia 3 found (19 total)

Pierre Robin sequence-faciodigital anomaly syndrome (287 words) [view diff] no match in snippet view article find links to article

Pierre Robin sequence-faciodigital anomaly syndrome, also known as Chitayat Meunier Hodgkinson syndrome, is a very rare genetic disorder which is characterized

The Resilience Project (691 words) [view diff] exact match in snippet view article find links to article

syndrome Autoimmune polyendocrine syndrome type 1 (APECED) Acampomelic campomelic dysplasia Atelosteogenesis DNA sequences from 589,306 people were used, obtained

Spliceman (1,092 words) [view diff] exact match in snippet view article find links to article

"Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations". Genetics