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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Familial trigonocephaly associated with short stature and developmental delay
Abstract:
A family in which three male members had premature closure of the metopic suture with other suture involvement was studied. Each of the affected persons also had short stature and delayed development. The pattern of inheritance appeared to be X-linked recessive; however, the possibility of autosomal dominant inheritance with low expressivity in women could not be excluded. Findings in these patients did not fit the previously described syndromes of craniostenosis.
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