Detection of gonadal mosaicism in Hartsfield syndrome by next generation sequencing.
Department of Pediatrics, Children's Hospital Colorado, University of Colorado School of Medicine/Molecular Genetics Laboratory, Aurora, Colorado.
Yong
Y
Shi
Departments of Neurology and Pediatrics, University of Virginia, Charlottesville, Virginia.
Radhika
R
Dhamija
Department of Pediatrics, Children's Hospital Colorado, University of Colorado School of Medicine/Molecular Genetics Laboratory, Aurora, Colorado.
Catherine
C
Wren
Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.
Xiangling
X
Wang
Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.
Dusica
D
Babovic-Vuksanovic
Department of Pediatrics, Children's Hospital Colorado, University of Colorado School of Medicine/Molecular Genetics Laboratory, Aurora, Colorado.
Elaine
E
Spector
D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006228:Hand Deformities, Congenital / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D016142:Holoprosencephaly / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009030:Mosaicism