Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.-论文-万方医学网

第一作者： S,Nuovo

第一单位： Unità di Genetica Medica, Policlinico Universitario Tor Vergata, 00133, Rome, Italy.

作者： S,Nuovo ^[1] ; M,Passeri ^[2] ; E,Di Benedetto ^[2] ; M,Calanchini ^[2] ; I,Meldolesi ^[3] ; M C,Di Giacomo ^[4] ; D,Petruzzi ^[5] ; M R,Piemontese ^[6] ; L,Zelante ^[6] ; F,Sangiuolo ^[7] ; G,Novelli ^[7] ; A,Fabbri ^[8] ; F,Brancati ^[9]

作者单位： Unità di Genetica Medica, Policlinico Universitario Tor Vergata, 00133, Rome, Italy. ^[1] Unità di Endocrinologia, Dipartimento di Medicina dei Sistemi, Polo Ospedaliero Sant'Eugenio & CTO A. Alesini, Università Tor Vergata, 00145, Rome, Italy. ^[2] Ginecologia, Consultorio Giovani, ASL RM/H, 00045, Rome, Italy. ^[3] U.O.C Anatomia Patologica AOR Ospedale San Carlo, 85100, Potenza, Italy. ^[4] U.O. Ostetricia e Ginecologia AOR Ospedale San Carlo, 85100, Potenza, Italy. ^[5] Genetica Medica, Ospedale Casa Sollievo della Sofferenza, 71013, San Giovanni Rotondo, Italy. ^[6] Unità di Genetica Medica, Policlinico Universitario Tor Vergata, 00133, Rome, Italy.;Dipartimento di Biomedicina e Prevenzione, Università Tor Vergata, 00133, Rome, Italy. ^[7] Unità di Endocrinologia, Dipartimento di Medicina dei Sistemi, Polo Ospedaliero Sant'Eugenio & CTO A. Alesini, Università Tor Vergata, 00145, Rome, Italy. andrea.fabbri@uniroma2.it. ^[8] Unità di Genetica Medica, Policlinico Universitario Tor Vergata, 00133, Rome, Italy. f.brancati@igenetica.com.;Dipartimento di Scienze Mediche, Orali e Biotecnologiche, Università D'Annunzio, 66013, Chieti, Italy. f.brancati@igenetica.com. ^[9]

医学主题词成年人(Adult);闭经(Amenorrhea);氨基酸取代(Amino Acid Substitution);睑裂狭小(Blepharophimosis);综合疗法(Combined Modality Therapy);DNA突变分析(DNA Mutational Analysis);眼睑(Eyelids);女(雌)性(Female);叉头转录因子类(Forkhead Transcription Factors);基因复制(Gene Duplication);遗传关联研究(Genetic Association Studies);激素替代疗法(Hormone Replacement Therapy);人类(Humans);意大利(Italy);月经初潮(Menarche);突变, 误义(Mutation, Missense);卵巢(Ovary);系谱(Pedigree);原发性卵巢功能不全(Primary Ovarian Insufficiency);皮肤畸形(Skin Abnormalities);泌尿生殖系统畸形(Urogenital Abnormalities);青年人(Young Adult)

DOI 10.1007/s40618-015-0334-3

PMID 26100530

发布时间 2018-11-13

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Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.

Journal of endocrinological investigation

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Journal of endocrinological investigation

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Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.

Journal of endocrinological investigation

相似文献

同项目论文

Journal of endocrinological investigation

相关期刊

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