Literature DB >> 27442045

A novel mutation of orthodenticle homeobox 2 contributing to a case of otocephaly initially diagnosed by prenatal ultrasound in the first trimester.

Meredith Jones1, Judith Chung, Virginia Kimonis, June-Anne Gold.   

Abstract

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Year:  2017        PMID： 27442045     DOI： 10.1097/MCD.0000000000000145

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  2 in total

Review 1.  Re-focusing on Agnathia-Otocephaly complex.

Authors:  C Dubucs; N Chassaing; C Sergi; M Aubert-Mucca; T Attié-Bitach; D Lacombe; C Thauvin-Robinet; S Arpin; M J Perez; C Cabrol; C P Chen; J Aziza; E Colin; J Martinovic; P Calvas; Julie Plaisancié
Journal:  Clin Oral Investig       Date:  2020-07-09       Impact factor: 3.573

2.  A de novo variant in OTX2 in a lamb with otocephaly.

Authors:  Julia Maria Paris; Anna Letko; Irene Monika Häfliger; Tanja Švara; Mitja Gombač; Primož Klinc; Andrej Škibin; Estera Pogorevc; Cord Drögemüller
Journal:  Acta Vet Scand       Date:  2020-01-22       Impact factor: 1.695
  2 in total

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