TY  - GEN
AU  - Takatani,Rieko
AU  - Molinaro,Angelo
AU  - Grigelioniene,Giedre
AU  - Tafaj,Olta
AU  - Watanabe,Tomoyuki
AU  - Reyes,Monica
AU  - Sharma,Amita
AU  - Singhal,Vibha
AU  - Raymond,F Lucy
AU  - Linglart,Agnès
AU  - Jüppner,Harald
TI  - Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion
SN  - 1523-4681
PY  - 2016///1219
KW  - Adolescent
KW  - Alleles
KW  - Base Sequence
KW  - Cell Line, Transformed
KW  - Child
KW  - Chromogranins
KW  - genetics
KW  - DNA Methylation
KW  - Epigenesis, Genetic
KW  - Exons
KW  - Family
KW  - Female
KW  - GTP-Binding Protein alpha Subunits, Gs
KW  - Humans
KW  - Male
KW  - Pseudohypoparathyroidism
KW  - Sequence Deletion
KW  - Syntaxin 16
N1  - Publication Type: Clinical Trial; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/jbmr.2731
ER  -