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pro vyhledávání: '"Udhaya H Kotecha"'
Publikováno v:
Indian Journal of Paediatric Dermatology, Vol 23, Iss 4, Pp 322-324 (2022)
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous mutations in RECQL4 gene and has characteristic clinical features of poikiloderma, congenital bone defects, gastrointestinal disturba
Externí odkaz:
https://doaj.org/article/52f1981c201740c4854bb3d0454609aa
