Homozygous LMNA mutation R527C in atypical Hutchinson-Gilford progeria syndrome: Evidence for autosomal recessive inheritance

Acta Paediatrica, International Journal of Paediatrics

Volumn 98, Issue 8, 2009, Pages 1365-1368

  Liang, Lili ^b   Zhang, Huiwen ^b   Gu, Xuefan ^a,b  

^a XINHUA HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

Familial occurrence; Inherited metabolic disorder; Mutation analysis; Skeletal dysplasia

Indexed keywords

LAMIN A;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BONE INJURY; CASE REPORT; CHILD; CHINESE; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; DIGESTIVE SYSTEM DISEASE; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GROWTH RETARDATION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; MALE; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGERIA; SCHOOL CHILD; SIBLING;

EID: 68249129558     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2009.01324.x     Document Type: Article

References (13)

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