Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation

Walker Warburg syndrome (WWS) lies at the severe end of the spectrum of the congenital muscular dystrophies. WWS is a congenital disorder of the O-glycosylation that disrupts in the post-translation modification of dystroglycan proteins. WWS is characterized by the involvement of the central nervous...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής

Κύριοι συγγραφείς:	Veronica Arora, Sunita Bijarnia-Mahay, Samarth Kulshreshtra, Kanika Singh, Ratna Dua Puri, Ishwar Chandar Verma
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	University of São Paulo 2019-10-01
Σειρά:	Autopsy and Case Reports
Θέματα:	Congenital Disorder of Glycosylation Walker-Warburg Syndrome Hydrocephalus
Διαθέσιμο Online:	http://www.revistas.usp.br/autopsy/article/view/162885
Ετικέτες:	Προσθήκη ετικέτας Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!