Houdayer, Clara <br/><br/>
Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs.  [electronic resource] 

 -  The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians  Jul 2021 
 - 2217-2220 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1476-4954 
<br/><br/><label>Standard No.: </label>10.1080/14767058.2019.1657084  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Craniofacial Abnormalities<br/>Dwarfism<br/>Female<br/>Humans<br/>Joint Instability<br/>Ossification, Heterotopic<br/>Polydactyly<br/>Pregnancy<br/>Prenatal Diagnosis<br/>Exome Sequencing