A Recurrence of a Hydrop Lethal Skeletal Dysplasia Showing Similarity to Desbuquois Dysplasia and a Proposed New Sign: The Upsilon Sign
- Author
- BAYNAM, Gareth1 2 ; KIRALY-BORRI, Cathy1 ; GOLDBLATT, Jack1 2 ; DICKINSON, Jan E3 ; JEVON, Gareth P4 ; OVERKOV, Angela1
[1] Genetic Services of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, Perth, Western Australia, Australia
[2] School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia
[3] School of Women's and infants' Health, The University of Western Australia, Perth, Western Australia, Australia
[4] Pathwest and Histopathology, Princess Margaret Hospital; Department of Pathology and Laboratory Medicine, University of Western Australia, Perth, Western Australia, Australia - Source
American journal of medical genetics. Part A. 2010, Vol 152, Num 4, pp 966-969, 4 p ; ref : 1/4 p
- Publisher
- Wiley-Liss, Chichester
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- Desbuquois dysplasia hydrops prenatal skeletal dysplasia
- Keyword (fr)
- Dysplasie Os Prénatal Récidive Récurrence Similitude Squelette Forme fatale
- Keyword (en)
- Dysplasia Bone Prenatal Relapse Recurrence Similarity Skeleton
- Keyword (es)
- Displasia Hueso Prenatal Recaida Recurrencia Similitud Esqueleto
- Classification
- Discipline
- Medical genetics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 22586684
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1002/ajmg.a.33264 
https://dx.doi.org/10.1002/ajmg.a.33264
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