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Publications by Shyang-Ron Shih

X-Linked Adrenal Hypoplasia Congenita With a Novel DAX1 Missense Mutation

Endocrine Abstracts
2015English

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A Novel Stop Mutation (P.(Gln22*)) of DAX1 (NR0B1) Results in Late-Onset X-Linked Adrenal Hypoplasia Congenita

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Testicular Microlithiasis in a Boy With X-Linked Adrenal Hypoplasia Congenita

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Normal Puberty in X-Linked Cytomegalic Congenital Adrenal Hypoplasia (Ccah)

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X-Linked Inheritance of Congenital Cortisol and Aldosterone Insufficiency (Adrenal Hypoplasia)

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A Novel Mutation in a Kazakh Family With X-Linked Alport Syndrome

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X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome

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A Missense Mutation, p.V132G, in the X-Linked Spermine Synthase Gene (SMS) Causes Snyder-Robinson Syndrome

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A Novel Missense Mutation of COL5A2 in a Patient With Ehlers–Danlos Syndrome

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A Novel Missense Mutation in USP26 Gene Is Associated With Nonobstructive Azoospermia

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