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P97. Loss of CHSY1, a novel FRINGE enzyme, causes syndromic brachydactyly via increased NOTCH signaling
by
Tian, A.J.
,
Ling, L.
,
Shboul, M.
,
Lee, H.
,
O'Connor, B.
,
Merriman, B.
,
Nelson, S.F.
,
Cool, S.
,
Ababneh, O.H.
,
Al-Hadidy, A.
,
Masri, A.
,
Hamamy, H.
,
Reversade, B.
Published in
Differentiation (London)
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