Literature DB >> 27616149

Reversal of congenital hypogonadotropic hypogonadism in a man with Kallmann syndrome due to SOX10 mutation.

Luigi Maione1,2,3, Sylvie Brailly-Tabard2,3,4, Jérôme Nevoux4,5, Jérôme Bouligand2,3,4, Jacques Young1,3,4.   

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Year:  2016        PMID： 27616149     DOI： 10.1111/cen.13231

Source DB:  PubMed          Journal:  Clin Endocrinol (Oxf)        ISSN： 0300-0664            Impact factor:   3.478


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  5 in total

1.  A Case of Male Osteoporosis: A 37-Year-Old Man with Multiple Vertebral Compression Fractures.

Authors:  Suhaib Radi; Andrew C Karaplis
Journal:  Case Rep Endocrinol       Date:  2017-07-16

2.  Targeted Next-Generation Sequencing Identifies Separate Causes of Hearing Loss in One Deaf Family and Variable Clinical Manifestations for the p.R161C Mutation in SOX10.

Authors:  Xiaoyu Yu; Yun Lin; Hao Wu
Journal:  Neural Plast       Date:  2020-08-28       Impact factor: 3.599

Review 3.  Genetic Evaluation of Patients With Delayed Puberty and Congenital Hypogonadotropic Hypogonadism: Is it Worthy of Consideration?

Authors:  Adalgisa Festa; Giuseppina Rosaria Umano; Emanuele Miraglia Del Giudice; Anna Grandone
Journal:  Front Endocrinol (Lausanne)       Date:  2020-05-19       Impact factor: 5.555

Review 4.  Kallmann Syndrome Due to Heterozygous Mutation in SOX10 Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature.

Authors:  Kan Chen; Haoyu Wang; Yaxin Lai
Journal:  Front Endocrinol (Lausanne)       Date:  2021-02-01       Impact factor: 5.555

5.  SOX10 Mutation Screening for 117 Patients with Kallmann Syndrome.

Authors:  Hirohito Shima; Etsuro Tokuhiro; Shingo Okamoto; Mariko Nagamori; Tsutomu Ogata; Satoshi Narumi; Akie Nakamura; Yoko Izumi; Tomoko Jinno; Erina Suzuki; Maki Fukami
Journal:  J Endocr Soc       Date:  2021-03-30
  5 in total

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