title: Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance.
authors.forename: W
authors.initials: W
authors.lastname: Courtens
authors.forename: A B
authors.initials: AB
authors.lastname: Johansson
authors.forename: B
authors.initials: B
authors.lastname: Dachy
authors.forename: F
authors.initials: F
authors.lastname: Avni
authors.forename: N
authors.initials: N
authors.lastname: Telerman-Toppet
authors.forename: H
authors.initials: H
authors.lastname: Scheffer
mesh_terms: D000328:Adult; D005260:Female; D050723:Fractures, Bone / Q000151:congenital* / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014897:Spinal Muscular Atrophies of Childhood / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics