合計: 1 |
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PMID (PMCID) | ||
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22197489 |
MIXED_SAMPLE | Infant, Newborn |
Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome. | ||
Kalay E, Sezgin O, Chellappa V, Mutlu M, Morsy H, Kayserili H, Kreiger E, Cansu A, Toraman B, Abdalla EM, Aslan Y, Pillai S, Akarsu NA. Am J Hum Genet. 2012;90(1):76-85. |
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The autosomal-recessive form of popliteal pterygium syndrome, also known as Bartsocas-Papas syndrome, is a rare, but frequently lethal disorder characterized by marked popliteal pterygium associated with multiple congenital malformations. |