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A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy
Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.
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Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.
Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C. J Med Genet. 2003 Nov; 40(11):854-7.
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PubMed
subject areas
Abnormalities, Multiple
Adolescent
Amino Acid Substitution
Arginine
Craniofacial Abnormalities
Genes, Recessive
Genotype
Histidine
Homozygote
Humans
Lamin Type A
Lipodystrophy
Male
Musculoskeletal Abnormalities
Mutation
Phenotype
authors with profiles
JAMES LUPSKI