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Pituitary hypoplasia and growth hormone deficiency in a patient with Coffin-Siris syndrome and severe short stature
Sep 23, 2024
—
by
coffinsirisdev
Case report and literature review
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The endocrine phenotype of SWI/SNF-associated coffin-siris syndrome includes pituitary endocrinopathies, pituitary hypoplasia, and septo-optic dysplasia
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Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia
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