Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 10, 2014, Pages E2067-E2075

  Topaloglu, A Kemal ^a,b   Lomniczi, Alejandro ^c   Kretzschmar, Doris ^d   Dissen, Gregory A ^c   Kotan, L Damla ^b   McArdle, Craig A ^e   Koc, A Filiz ^a   Hamel, Ben C ^f   Guclu, Metin ^g   Papatya, Esra D ^g   Eren, Erdal ^g   Mengen, Eda ^a   Gurbuz, Fatih ^a   Cook, Mandy ^d   Castellano, Juan M ^h   Kekil, M Burcu ^b   Mungan, Neslihan O ^a   Yuksel, Bilgin ^a   Ojeda, Sergio R ^c  

^a CUKUROVA UNIVERSITY FACULTY OF MEDICINE   (Turkey)

^b CUKUROVA UNIVERSITY   (Turkey)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^e UNIVERSITY OF BRISTOL   (United Kingdom)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g ULUDAG UNIVERSITY   (Turkey)

^h UNIVERSITY OF CÓRDOBA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCHOLINESTERASE; NEUROTOXIC ESTERASE; CARBOXYLESTERASE; GONADORELIN; PHOSPHOLIPASE; PHOSPHOLIPID; PNPLA6 PROTEIN, HUMAN;

ADULT; ARTICLE; CELL VACUOLE; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; ELECTROMYOGRAPHY; ENZYME ACTIVITY; EXOCYTOSIS; EXOME; FEMALE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSCRIPTION; GORDON HOLMES SYNDROME; HOMEOSTASIS; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; LOSS OF FUNCTION MUTATION; MALE; MIDDLE AGED; PHENOTYPE; PNPLA6 GENE; SIGNAL TRANSDUCTION; SITE DIRECTED MUTAGENESIS; YOUNG ADULT; ADOLESCENT; CASE REPORT; DEFICIENCY; DELAYED PUBERTY; FAMILY HEALTH; GENETICS; HYPOGONADISM; METABOLISM; NERVE DEGENERATION; PEDIGREE;

ADOLESCENT; CARBOXYLIC ESTER HYDROLASES; CEREBELLAR ATAXIA; FAMILY HEALTH; FEMALE; GONADOTROPIN-RELEASING HORMONE; HOMEOSTASIS; HUMANS; HYPOGONADISM; MALE; MIDDLE AGED; NERVE DEGENERATION; PEDIGREE; PHOSPHOLIPASES; PHOSPHOLIPIDS; PUBERTY, DELAYED;

EID: 84907612367     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2014-1836     Document Type: Article

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