A de Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities between Schaaf-Yang and Opitz-C Syndromes

Scientific Reports

Volumn 7, Issue , 2017, Pages

  Urreizti, Roser ^a,b   Cueto Gonzalez, Anna Maria ^c   Franco Valls, Héctor ^a   Mort Farre, Sílvia ^a   Roca Ayats, Neus ^a,b   Ponomarenko, Julia ^d   Cozzuto, Luca ^d   Company, Carlos ^d   Bosio, Mattia ^d   Ossowski, Stephan ^d   Montfort, Magda ^d   Hecht, Jochen ^d   Tizzano, Eduardo F ^b,c   Cormand, Bru ^a,b   Vilageliu, Lluïsa ^a,b   Opitz, John M ^e   Neri, Giovanni ^f   Grinberg, Daniel ^a,b   Balcells, Susana ^a,b  

^a UNIVERSITY OF BARCELONA   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^d UNIVERSITAT POMPEU FABRA   (Spain)

^e UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^f FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MAGEL2 PROTEIN, HUMAN; PROTEIN;

ADULT; CASE REPORT; CRANIOFACIAL SYNOSTOSIS; FEMALE; GENETICS; HUMAN; INTELLECTUAL IMPAIRMENT; METABOLISM; MISSENSE MUTATION;

ADULT; CRANIOSYNOSTOSES; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MUTATION, MISSENSE; PROTEINS;

EID: 85014943984     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep44138     Document Type: Article

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