TY  - GEN
AU  - Linglart,Agnès
AU  - Carel,Jean Claude
AU  - Garabédian,Michèle
AU  - Lé,Tran
AU  - Mallet,Eric
AU  - Kottler,Marie Laure
TI  - GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance
SN  - 0021-972X
PY  - 2002///0207
KW  - Adolescent
KW  - Adult
KW  - Alleles
KW  - Child
KW  - Child, Preschool
KW  - Female
KW  - Fibrous Dysplasia, Polyostotic
KW  - genetics
KW  - GTP-Binding Protein alpha Subunits, Gs
KW  - deficiency
KW  - Genotype
KW  - Humans
KW  - Hypocalcemia
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Pseudohypoparathyroidism
KW  - blood
N1  - Publication Type: Comparative Study; Journal Article
UR  - https://doi.org/10.1210/jcem.87.1.8133
ER  -