OROFACIODIGITAL SYNDROME II; OFD2

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Summary

Literature (1)

Literature for OMIM 252100: OROFACIODIGITAL SYNDROME II; OFD2

Xenbase Articles:
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INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex., Mascibroda LG,Shboul M,Elrod ND,Colleaux L,Hamamy H,Huang KL,Peart N,Singh MK,Lee H,Lee H,Merriman B,Jodoin JN,Sitaram P,Lee LA,Fathalla R,Al-Rawashdeh B,Ababneh O,El-Khateeb M,Escande-Beillard N,Nelson SF,Wu Y,Tong L,Kenney LJ,Roy S,Russell WK,Amiel J,Reversade B,Wagner EJ, Nat Commun. October 13, 2022; 13(1):2041-1723.

INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex., Mascibroda LG,Shboul M,Elrod ND,Colleaux L,Hamamy H,Huang KL,Peart N,Singh MK,Lee H,Lee H,Merriman B,Jodoin JN,Sitaram P,Lee LA,Fathalla R,Al-Rawashdeh B,Ababneh O,El-Khateeb M,Escande-Beillard N,Nelson SF,Wu Y,Tong L,Kenney LJ,Roy S,Russell WK,Amiel J,Reversade B,Wagner EJ, Nat Commun. October 13, 2022; 13(1):2041-1723.