Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance.
Courtens
W
W
Johansson
A B
AB
Dachy
B
B
Avni
F
F
Telerman-Toppet
N
N
Scheffer
H
H
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