TY  - GEN
AU  - Hancarova,Miroslava
AU  - Havlovicova,Marketa
AU  - Putzova,Martina
AU  - Vseticka,Jan
AU  - Prchalova,Darina
AU  - Stranecky,Viktor
AU  - Sedlacek,Zdenek
TI  - Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome
SN  - 1552-4833
PY  - 2020///0803
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Child
KW  - Child, Preschool
KW  - Female
KW  - Gonads
KW  - pathology
KW  - Humans
KW  - Male
KW  - Mosaicism
KW  - Mutation
KW  - NFI Transcription Factors
KW  - chemistry
KW  - Pedigree
KW  - Pregnancy
KW  - Siblings
KW  - Syndrome
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.61302
ER  -