TY  - GEN
AU  - Tajouri,Asma
AU  - Kharrat,Maher
AU  - Hizem,Syrine
AU  - Zaghdoudi,Hajer
AU  - M'rad,Ridha
AU  - Simic-Schleicher,Gunter
AU  - Kaiser,Frank J
AU  - Hiort,Olaf
AU  - Werner,Ralf
TI  - In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis
SN  - 1098-1004
PY  - 2019///1007
KW  - Animals
KW  - Child, Preschool
KW  - Drosophila Proteins
KW  - chemistry
KW  - Drosophila melanogaster
KW  - Female
KW  - Genetic Association Studies
KW  - Genetic Predisposition to Disease
KW  - Gonadal Dysgenesis, 46,XY
KW  - genetics
KW  - Hedgehog Proteins
KW  - Heterozygote
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Protein Domains
KW  - Proteolysis
KW  - Species Specificity
KW  - Young Adult
N1  - Publication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.23664
ER  -