Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood

Kosuke Izumi, Masaki Takagi, Aditi S. Parikh, Amanda Hahn, Shana N. Miskovsky, Gen Nishimura, Chiharu Torii, Kenjiro Kosaki, Tomonobu Hasegawa, Derek E. Neilson

Research output: Contribution to journalArticle

6 Citations (Scopus)
Original languageEnglish
Pages (from-to)2115-2119
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume152
Issue number8
DOIs
Publication statusPublished - 2010 Aug

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Langer-Giedion Syndrome
Molecular Sequence Data
Amino Acid Sequence Homology
DNA-Binding Proteins
Age of Onset
Amino Acid Sequence
Transcription Factors
Phenotype
Bone and Bones
Mutation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Izumi, K., Takagi, M., Parikh, A. S., Hahn, A., Miskovsky, S. N., Nishimura, G., ... Neilson, D. E. (2010). Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood. American Journal of Medical Genetics, Part A, 152(8), 2115-2119. https://doi.org/10.1002/ajmg.a.33511

Late manifestations of tricho-rhino-pharangeal syndrome in a patient : Expanded skeletal phenotype in adulthood. / Izumi, Kosuke; Takagi, Masaki; Parikh, Aditi S.; Hahn, Amanda; Miskovsky, Shana N.; Nishimura, Gen; Torii, Chiharu; Kosaki, Kenjiro; Hasegawa, Tomonobu; Neilson, Derek E.

In: American Journal of Medical Genetics, Part A, Vol. 152, No. 8, 08.2010, p. 2115-2119.

Research output: Contribution to journalArticle

Izumi, Kosuke ; Takagi, Masaki ; Parikh, Aditi S. ; Hahn, Amanda ; Miskovsky, Shana N. ; Nishimura, Gen ; Torii, Chiharu ; Kosaki, Kenjiro ; Hasegawa, Tomonobu ; Neilson, Derek E. / Late manifestations of tricho-rhino-pharangeal syndrome in a patient : Expanded skeletal phenotype in adulthood. In: American Journal of Medical Genetics, Part A. 2010 ; Vol. 152, No. 8. pp. 2115-2119.
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