Literature DB >> 31015240

Microphthalmia with linear skin defects syndrome (MIDAS).

Denise Banganho1, Inês Oliveira1, Catarina Machado2, Marta Póvoas1.   

Abstract

Entities:  

Keywords:  congenital disorders; dermatology; genetic screening/counselling; neonatal health; ophthalmology

Mesh：

Substances：

Year:  2019        PMID： 31015240      PMCID： PMC6510122          DOI： 10.1136/bcr-2018-227791

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


× No keyword cloud information.
  3 in total

1.  Anterior segment developmental anomalies in a 33-week-old fetus with MIDAS syndrome.

Authors:  Martina C Herwig; Karin U Loeffler; Ulrich Gembruch; Klaus Kuchelmeister; Annette M Müller
Journal:  Pediatr Dev Pathol       Date:  2014-10-07

2.  Congenital linear streaks on the face and neck and microphthalmia in an infant girl.

Authors:  Nicolas Kluger; Antoine Bouissou; Laurent Tauzin; Jacques Puechberty; Olivier Dereure
Journal:  Acta Derm Venereol       Date:  2014-05       Impact factor: 4.437

3.  Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.

Authors:  Vanessa A van Rahden; Isabella Rau; Sigrid Fuchs; Friederike K Kosyna; Hiram Larangeira de Almeida; Helen Fryssira; Bertrand Isidor; Anna Jauch; Madeleine Joubert; Augusta M A Lachmeijer; Christiane Zweier; Ute Moog; Kerstin Kutsche
Journal:  Orphanet J Rare Dis       Date:  2014-04-15       Impact factor: 4.123
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.