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Hatice Yelda

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Articles by Hatice Yelda

Expression of Autophagy-Related Proteins in Microlissencephaly Associated with a Novel Variant in the WDR81 Gene

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By Hatice Yelda, Dokuz Eylul, Izmir Tinaztepe, Teke Kısa
| karger.com
Introduction: Microlissencephaly is a subtype of congenital microcephaly characterized by extreme microcephaly with simplified gyral pattern. Other brain malformations may accompany it. WDR81 encodes a multi-domain transmembrane protein that is predominantly expressed in the brain and is thought to play a role in endolysosomal trafficking and autophagy.
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Dual Diagnosis of Nongoitrous Congenital Hypothyroidism-6 and Snijders Blok-Campeau Syndrome

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By Van Training, Mehmet Burak, Hatice Yelda
| karger.com
Introduction: Nongoitrous congenital hypothyroidism-6 (CHNG6) is a thyroid hormone resistance syndrome caused by a thyroid hormone receptor alpha (THRA) gene mutation, characterized by tissue-specific hypothyroidism and near-normal thyroid function tests. Snijders Blok-Campeau syndrome (SNIBCPS) is a rare autosomal dominant neurodevelopmental disorder caused by mutations in CHD3 genes, characterized by intellectual retardation, hypotonia, speech problems, and distinctive facial findings.
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