Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome

Lisa Karger, Wahab A. Khan, Rafaela Calabio, Ram Singh, Bixia Xiang, Arvind Babu, Ninette Cohen, Amy Yang, Stuart A. Scott

Research output: Contribution to journalLetter

1 Citation (Scopus)
Original languageEnglish (US)
Pages (from-to)1436-1439
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume173
Issue number5
DOIs
StatePublished - May 1 2017
Externally publishedYes

Fingerprint

Uniparental Disomy
Prader-Willi Syndrome
Chromosomes, Human, Pair 15
Mothers
Deafness, Sensorineural, And Male Infertility
Trisomy mosaicism Chromosome 15

Keywords

  • CATSPER2
  • chromosome 15
  • deafness-infertility syndrome
  • Prader–Willi syndrome
  • STRC
  • uniparental disomy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome. / Karger, Lisa; Khan, Wahab A.; Calabio, Rafaela; Singh, Ram; Xiang, Bixia; Babu, Arvind; Cohen, Ninette; Yang, Amy; Scott, Stuart A.

In: American Journal of Medical Genetics, Part A, Vol. 173, No. 5, 01.05.2017, p. 1436-1439.

Research output: Contribution to journalLetter

Karger, Lisa ; Khan, Wahab A. ; Calabio, Rafaela ; Singh, Ram ; Xiang, Bixia ; Babu, Arvind ; Cohen, Ninette ; Yang, Amy ; Scott, Stuart A. / Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome. In: American Journal of Medical Genetics, Part A. 2017 ; Vol. 173, No. 5. pp. 1436-1439.
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AU - Karger, Lisa

AU - Khan, Wahab A.

AU - Calabio, Rafaela

AU - Singh, Ram

AU - Xiang, Bixia

AU - Babu, Arvind

AU - Cohen, Ninette

AU - Yang, Amy

AU - Scott, Stuart A.

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