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., ...Daha Fazla

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

Yayın Türü: Makale / Tam Makale
Cilt numarası: 99
Basım Tarihi: 2014
Doi Numarası: 10.1210/jc.2014-1836
Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Çukurova Üniversitesi Adresli: Evet

Özet

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.