TY  - GEN
AU  - Chen,Chih-Ping
AU  - Huang,Jian-Pei
AU  - Chen,Yi-Yung
AU  - Chern,Schu-Rern
AU  - Wu,Peih-Shan
AU  - Chen,Shin-Wen
AU  - Wang,Wayseen
AU  - Lee,Chen-Chi
TI  - Detection of a familial 1q21.1 microdeletion and concomitant CHD1L mutation in a fetus with oligohydramnios and bilateral renal dysplasia on prenatal ultrasound
SN  - 1875-6263
PY  - 2020///0504
KW  - Abnormalities, Multiple
KW  - diagnosis
KW  - Adult
KW  - Chromosome Deletion
KW  - Chromosomes, Human, Pair 1
KW  - genetics
KW  - DNA
KW  - DNA Helicases
KW  - DNA Mutational Analysis
KW  - DNA-Binding Proteins
KW  - Female
KW  - Humans
KW  - Kidney Tubules, Proximal
KW  - abnormalities
KW  - Megalencephaly
KW  - Mutation, Missense
KW  - Oligohydramnios
KW  - Pregnancy
KW  - Ultrasonography, Prenatal
KW  - methods
KW  - Urogenital Abnormalities
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.tjog.2019.07.031
ER  -