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. 2002 Jan;39(1):74–77. doi: 10.1136/jmg.39.1.74

Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance

W Courtens, A Johansson, B Dachy, F Avni, N Telerman-Toppet, H Scheffer

PMCID: PMC1734957 PMID: 11826032

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