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Boyadjiev SA, Kim S‐D, Hata A, Haldeman‐Englert C, Zackai EH, Naydenov C, Hamamoto S, Schekman RW, Kim J. Cranio‐lenticulo‐sutural dysplasia associated with defects in collagen secretion.
Cranio‐lenticulo‐sutural dysplasia (CLSD) is a rare autosomal recessive syndrome manifesting with large and late‐closing fontanels and calvarial hypomineralization, Y‐shaped cataracts, skeletal defects, and hypertelorism...