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

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, Scopus)

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.