TY  - GEN
AU  - Courtens,Winnie
AU  - Wuyts,Wim
AU  - Poot,Martin
AU  - Szuhai,Karoly
AU  - Wauters,Jan
AU  - Reyniers,Edwin
AU  - Eleveld,Marc
AU  - Diaz,George
AU  - Nöthen,Markus M
AU  - Parvari,Ruti
TI  - Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review
SN  - 1552-4825
PY  - 2006///0530
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Blotting, Western
KW  - Child, Preschool
KW  - Chromosome Aberrations
KW  - Face
KW  - abnormalities
KW  - Female
KW  - Gene Duplication
KW  - Genome, Human
KW  - Humans
KW  - Hypoparathyroidism
KW  - pathology
KW  - In Situ Hybridization, Fluorescence
KW  - Intellectual Disability
KW  - Karyotyping
KW  - Microtubule-Associated Proteins
KW  - Molecular Chaperones
KW  - Mutation
KW  - Nucleic Acid Hybridization
KW  - methods
KW  - Syndrome
N1  - Publication Type: Case Reports; Journal Article; Review
UR  - https://doi.org/10.1002/ajmg.a.31122
ER  -