CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B

Literature (1)

Literature for OMIM 612940: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B

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Mutations in PYCR1 cause cutis laxa with progeroid features., Reversade B,Escande-Beillard N,Dimopoulou A,Fischer B,Chng SC,Li Y,Shboul M,Tham PY,Kayserili H,Al-Gazali L,Shahwan M,Brancati F,Lee H,Lee H,O'Connor BD,Schmidt-von Kegler M,Merriman B,Nelson SF,Masri A,Alkazaleh F,Guerra D,Ferrari P,Nanda A,Rajab A,Markie D,Gray M,Nelson J,Grix A,Sommer A,Savarirayan R,Janecke AR,Steichen E,Sillence D,Hausser I,Budde B,Nürnberg G,Nürnberg P,Seemann P,Kunkel D,Zambruno G,Dallapiccola B,Schuelke M,Robertson S,Hamamy H,Wollnik B,Van Maldergem L,Mundlos S,Kornak U, Nat Genet. September 1, 2009; 41(9):1546-1718.

Mutations in PYCR1 cause cutis laxa with progeroid features., Reversade B,Escande-Beillard N,Dimopoulou A,Fischer B,Chng SC,Li Y,Shboul M,Tham PY,Kayserili H,Al-Gazali L,Shahwan M,Brancati F,Lee H,Lee H,O'Connor BD,Schmidt-von Kegler M,Merriman B,Nelson SF,Masri A,Alkazaleh F,Guerra D,Ferrari P,Nanda A,Rajab A,Markie D,Gray M,Nelson J,Grix A,Sommer A,Savarirayan R,Janecke AR,Steichen E,Sillence D,Hausser I,Budde B,Nürnberg G,Nürnberg P,Seemann P,Kunkel D,Zambruno G,Dallapiccola B,Schuelke M,Robertson S,Hamamy H,Wollnik B,Van Maldergem L,Mundlos S,Kornak U, Nat Genet. September 1, 2009; 41(9):1546-1718.