Literature DB >> 22268617

Novel OTX2 mutation associated with congenital anophthalmia and microphthalmia in a Han Chinese family.

Tian You, Yuan Lv, Shuqun Liu, Fei Li, Yan Zhao, Jingyu Lv, Guangrong Qiu, Jesse Li-Ling.   

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Year:  2012        PMID： 22268617     DOI： 10.1111/j.1755-3768.2011.02345.x

Source DB:  PubMed          Journal:  Acta Ophthalmol        ISSN： 1755-375X            Impact factor:   3.761


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  4 in total

Review 1.  Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.

Authors:  Qing Fang; Akima S George; Michelle L Brinkmeier; Amanda H Mortensen; Peter Gergics; Leonard Y M Cheung; Alexandre Z Daly; Adnan Ajmal; María Ines Pérez Millán; A Bilge Ozel; Jacob O Kitzman; Ryan E Mills; Jun Z Li; Sally A Camper
Journal:  Endocr Rev       Date:  2016-11-09       Impact factor: 19.871

2.  Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.

Authors:  Diana Matías-Pérez; Leopoldo A García-Montaño; Marisa Cruz-Aguilar; Iván A García-Montalvo; Jessica Nava-Valdéz; Tania Barragán-Arevalo; Cristina Villanueva-Mendoza; Camilo E Villarroel; Clavel Guadarrama-Vallejo; Rocío Villafuerte-de la Cruz; Oscar Chacón-Camacho; Juan C Zenteno
Journal:  J Hum Genet       Date:  2018-09-04       Impact factor: 3.172

3.  A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia.

Authors:  Jeremy M Schraw; Renata H Benjamin; Daryl A Scott; Brian P Brooks; Robert B Hufnagel; Scott D McLean; Hope Northrup; Peter H Langlois; Mark A Canfield; Angela E Scheuerle; Christian P Schaaf; Joseph W Ray; Han Chen; Michael D Swartz; Laura E Mitchell; A J Agopian; Philip J Lupo
Journal:  Ophthalmic Epidemiol       Date:  2020-12-20

4.  Distinguishing risk factors between congenital anophthalmia and microphthalmia using multivariable logistic regression.

Authors:  Yang Li; Zhijia Hou; Jingwen Ding; Ying Cui; Bixuan Qin; Dongmei Li
Journal:  Ann Transl Med       Date:  2020-06
  4 in total

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