Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome.
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
Lisa
L
Karger
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
Wahab A
WA
Khan
Division of Neonatology, Mount Sinai West, New York, New York.
Rafaela
R
Calabio
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
Ram
R
Singh
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
Bixia
B
Xiang
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
Arvind
A
Babu
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
Ninette
N
Cohen
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
Amy C
AC
Yang
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
Stuart A
0000-0001-5720-1864
SA
Scott
D015220:Calcium Channels / Q000235:genetics*; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D017353:Gene Deletion; D006319:Hearing Loss, Sensorineural / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007248:Infertility, Male / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D036341:Intercellular Signaling Peptides and Proteins; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D011218:Prader-Willi Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D029589:Seminal Plasma Proteins / Q000235:genetics*
C482695:CATSPER2 protein, human; D015220:Calcium Channels; D036341:Intercellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C499079:STRC protein, human; D029589:Seminal Plasma Proteins
CATSPER2; Prader-Willi syndrome; STRC; chromosome 15; deafness-infertility syndrome; uniparental disomy