Perrault syndrome: further evidence for genetic heterogeneity.
Emma M
EM
Jenkinson
Jill
J
Clayton-Smith
Sarju
S
Mehta
Christopher
C
Bennett
Willie
W
Reardon
Andrew
A
Green
Simon H S
SH
Pearce
Giuseppe
G
De Michele
Gerard S
GS
Conway
Deirdre
D
Cilliers
Natalie
N
Moreton
Julian R E
JR
Davis
Dorothy
D
Trump
William G
WG
Newman
D015067:17-Hydroxysteroid Dehydrogenases / Q000235:genetics; D000604:Amino Acyl-tRNA Synthetases / Q000235:genetics; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics; D005192:Family Health; D005260:Female; D018740:Genetic Heterogeneity; D023961:Gonadal Dysgenesis, 46,XX / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D006836:Hydro-Lyases / Q000235:genetics; D007859:Learning Disabilities / Q000150:complications / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics; D064029:Peroxisomal Multifunctional Protein-2; D010641:Phenotype
D015067:17-Hydroxysteroid Dehydrogenases; D006836:Hydro-Lyases; D064029:Peroxisomal Multifunctional Protein-2; C104587:HSD17B4 protein, human; D000604:Amino Acyl-tRNA Synthetases; C093612:HARS2 protein, human