Néstor-Guillermo progeria syndrome: A novel premature aging condition with early onset and chronic development caused by BANF1 mutations

American Journal of Medical Genetics, Part A

Volumn 155, Issue 11, 2011, Pages 2617-2625

  Cabanillas, Rubén ^a   Cadiñanos, Juan ^a   Villameytide, José A F ^b   Pérez, Mercedes ^b   Longo, Jesús ^b   Richard, José M ^b   Álvarez, Rebeca ^a   Durán, Noelia S ^a   Illán, Rafael ^b   González, Daniel J ^b   López Otín, Carlos ^c  

^a Instituto de Medicina Oncológica y Molecular de Asturias   (Spain)

^b Centro Medico de Asturias   (Spain)

^c UNIVERSITY OF OVIEDO   (Spain)

Author keywords

Accelerated aging; Genome sequencing; Lipodystrophy; Nuclear lamina; Osteolysis; Osteoporosis

Indexed keywords

25 HYDROXYVITAMIN D; GROWTH HORMONE; LEPTIN; PARATHYROID HORMONE[1-34]; SOMATOMEDIN C; TESTOSTERONE;

ADOLESCENT; ADULT; AGING; ANATOMICAL VARIATION; ARTICLE; BANF1 GENE; BODY HEIGHT; BODY WEIGHT; BONE RADIOGRAPHY; CASE REPORT; CHILD; CHRONIC DISEASE; CISTERNA MAGNA; COMPUTER ASSISTED TOMOGRAPHY; CONSERVATIVE TREATMENT; DENSITOMETRY; DISEASE SEVERITY; DRY SKIN; ELECTROCARDIOGRAM; EXOSTOSIS; FAILURE TO THRIVE; FEMUR FRACTURE; FOOT PAIN; GROWTH ACCELERATION; GROWTH RETARDATION; HAIR LOSS; HEART BUNDLE BRANCH BLOCK; HUMAN; LIPOATROPHY; MALE; MANDIBULOFACIAL DYSOSTOSIS; MUTATOR GENE; NESTOR GUILLERMO PROGERIA SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; ORTHOPEDIC SURGERY; OSTEOLYSIS; OSTEOPOROSIS; OTOSCOPY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGERIA; PULMONARY HYPERTENSION; QUALITY OF LIFE; SCHOOL CHILD; SCOLIOSIS; SEROUS OTITIS MEDIA; SINUS TACHYCARDIA; SKELETON MALFORMATION; SUBCUTANEOUS FAT DISORDER; SURVIVAL TIME; TOOTH EXTRACTION;

ADOLESCENT; ADULT; BONE DISEASES, DEVELOPMENTAL; CHILD; CHILD, PRESCHOOL; CHRONIC DISEASE; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; GENETIC TESTING; GROWTH DISORDERS; HUMANS; MALE; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; PROGERIA; YOUNG ADULT;

NESTOR;

EID: 80054936412     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34249     Document Type: Article

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