Loss-of-Function Mutations in PNPLA6 Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome

Topaloğlu, ALİ; Lomniczi, Alejandro; Kretzschmar, Doris; Dissen, Gregory; Kotan, LEMAN; Mcardle, Craig; Koç, AYŞE; Hamel, Ben; Guclu, Metin; Papatya, Esra; Eren, Erdal; Mengen, Eda; Gurbuz, FATİH; Cook, Mandy; Castellano, Juan; Kekil, M.; Mungan, Neslihan; Yuksel, BİLGİN; Ojeda, Sergio

doi:10.1210/jc.2014-1836

Loss-of-Function Mutations in PNPLA6 Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome

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Topaloğlu A. K., Lomniczi A., Kretzschmar D., Dissen G. A., Kotan L. D., Mcardle C. A., ...More

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.99, 2014 (SCI-Expanded)

Publication Type: Article / Article
Volume: 99
Publication Date: 2014
Doi Number: 10.1210/jc.2014-1836
Journal Name: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Çukurova University Affiliated: Yes

Abstract

Context: Gordon Holmes syndrome (GHS) is characterized by cerebellar ataxia/atrophy and normosmic hypogonadotropic hypogonadism (nHH). The underlying pathophysiology of this combined neurodegeneration and nHH remains unknown.