TY  - GEN
AU  - Mayr,Johannes A
AU  - Koch,Johannes
AU  - Fauth,Christine
AU  - Zimmermann,Franz A
AU  - Rauscher,Christian
AU  - Zschocke,Johannes
AU  - Sperl,Wolfgang
TI  - A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiency
SN  - 1439-1899
PY  - 2012///1106
KW  - Child, Preschool
KW  - Chromosome Deletion
KW  - Chromosomes, Human, X
KW  - Female
KW  - Humans
KW  - Infant
KW  - Protein Serine-Threonine Kinases
KW  - genetics
KW  - Pyruvate Dehydrogenase (Lipoamide)
KW  - Pyruvate Dehydrogenase Complex Deficiency Disease
KW  - Spasms, Infantile
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1055/s-0032-1309308
ER  -