Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

Journal of Medical Genetics

Volumn 53, Issue 11, 2016, Pages 776-785

  Soria Valles, Clara ^a   Carrero, Dido ^a   Gabau, Elisabeth ^b   Velasco, Gloria ^a   Quesada, Víctor ^a   Bárcena, Clea ^a   Moens, Marleen ^c   Fieggen, Karen ^d   Möhrcken, Silvia ^e   Owens, Martina ^f   Puente, Diana A ^a   Asensio, Óscar ^b   Loeys, Bart ^g   Pérez, Ana ^b   Benoit, Valerie ^g   Wuyts, Wim ^g   Lévy, Nicolas ^h   Hennekam, Raoul C ⁱ   De Sandre Giovannoli, Annachiara ^h   López Otín, Carlos ^a  

^a DEPARTAMENTO DE BIOQUÍMICA Y BIOLOGÍA MOLECULAR   (Spain)

^b Servicio de Cirugía General Y Aparato Digestivo   (Spain)

^c Rehabilitation Center for Children and Adolescents   (Belgium)

^d UNIVERSITY OF CAPE TOWN   (South Africa)

^e Department of Pediatrics Medi Clinic Hospital ^*  (Namibia)

^f ROYAL DEVON AND EXETER NHS FOUNDATION TRUST   (United Kingdom)

^g ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^h AIX MARSEILLE UNIVERSITY   (France)

ⁱ EMMA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

LAMIN A; LAMIN C;

ARTICLE; CASE REPORT; CELL NUCLEUS MEMBRANE; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; ECTOPIC EXPRESSION; EXOME; FEMALE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; MALE; NEWBORN ASSESSMENT; NEWBORN DISEASE; NUCLEAR LAMINA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGERIA; SKIN FIBROBLAST; UPPER RESPIRATORY TRACT OBSTRUCTION;

EID: 84979085129     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103695     Document Type: Article

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