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Rapadilino syndrome is a genetic disease characterized by a characteristic clinical tableau. It is caused by mutations in RECQL4… Expand RAPADILINO syndrome is an autosomally resessively inherited condition that belongs to a group of rare syndromes more common in… Expand Baller-Gerold syndrome (BGS) is a rare autosomal recessive condition with radial aplasia/hypoplasia and craniosynostosis (OMIM… Expand BACKGROUND
Mutations of the human helicase gene RECQL4 have been identified in a subset of patients with Rothmund-Thomson… Expand The Rothmund-Thomson syndrome (growth retardation, skin and bone defects, predisposition to cancer) and the RAPADILINO syndrome… Expand The RECQL4 helicase gene is a member of the RECQL gene family, mutated in some Rothmund-Thomson syndrome (RTS) patients. Other… Expand We report on a boy with RAPADILINO syndrome. Including this report seven children with this syndrome have been described. The… Expand We report on a boy with severe radial hypoplasia, absent thumbs and patellae, short stature, persistent diarrhea, slender nose… Expand A new malformation syndrome is described in a pair of sibs and 3 sporadic patients. The characteristic manifestations are radial… Expand