Two cases of Legg–Perthes and intellectual disability in Tricho–Rhino–Phalangeal syndrome type 1 associated with novel TRPS1 mutations

Jordana L. Gilman; Heather A. Newman; Rebecca Freeman; Kathryn E. Singh; Rebecca L. Puckett; David K. Morohashi; Constance Stein; Kathryn Palomino; Robert Roger Lebel; Virginia E. Kimonis

doi:10.1002/ajmg.a.38204

Two cases of Legg–Perthes and intellectual disability in Tricho–Rhino–Phalangeal syndrome type 1 associated with novel TRPS1 mutations

Jordana L. Gilman
, Heather A. Newman
, Rebecca Freeman
, Kathryn E. Singh
, Rebecca L. Puckett
, David K. Morohashi
, Constance Stein
, Kathryn Palomino
, Robert Roger Lebel
, Virginia E. Kimonis

Department of Pediatrics

SUNY Health Science Center
University of California, Irvine
University of California
SUNY Upstate Medical University

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	1663-1667
Number of pages	5
Journal	American Journal of Medical Genetics, Part A
Volume	173
Issue number	6
DOIs	https://doi.org/10.1002/ajmg.a.38204
State	Published - Jun 2017

ASJC Scopus Subject Areas

Genetics
Genetics(clinical)

Keywords

cone shaped epiphyses
Legg–Perthes
Tricho–Rhino–Phalangeal syndrome type 1
TRPS1

Access to Document

10.1002/ajmg.a.38204

Cite this

Gilman, J. L., Newman, H. A., Freeman, R., Singh, K. E., Puckett, R. L., Morohashi, D. K., Stein, C., Palomino, K., Lebel, R. R., & Kimonis, V. E. (2017). Two cases of Legg–Perthes and intellectual disability in Tricho–Rhino–Phalangeal syndrome type 1 associated with novel TRPS1 mutations. American Journal of Medical Genetics, Part A, 173(6), 1663-1667. https://doi.org/10.1002/ajmg.a.38204

Gilman, JL, Newman, HA, Freeman, R, Singh, KE, Puckett, RL, Morohashi, DK, Stein, C, Palomino, K, Lebel, RR & Kimonis, VE 2017, 'Two cases of Legg–Perthes and intellectual disability in Tricho–Rhino–Phalangeal syndrome type 1 associated with novel TRPS1 mutations', American Journal of Medical Genetics, Part A, vol. 173, no. 6, pp. 1663-1667. https://doi.org/10.1002/ajmg.a.38204

@article{a86ea8ab9c764bd0a85ae907920c49f5,

title = "Two cases of Legg–Perthes and intellectual disability in Tricho–Rhino–Phalangeal syndrome type 1 associated with novel TRPS1 mutations",

keywords = "cone shaped epiphyses, Legg–Perthes, Tricho–Rhino–Phalangeal syndrome type 1, TRPS1",

author = "Gilman, \{Jordana L.\} and Newman, \{Heather A.\} and Rebecca Freeman and Singh, \{Kathryn E.\} and Puckett, \{Rebecca L.\} and Morohashi, \{David K.\} and Constance Stein and Kathryn Palomino and Lebel, \{Robert Roger\} and Kimonis, \{Virginia E.\}",

note = "Publisher Copyright: {\textcopyright} 2017 Wiley Periodicals, Inc.",

year = "2017",

month = jun,

doi = "10.1002/ajmg.a.38204",

language = "English",

volume = "173",

pages = "1663--1667",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

number = "6",

}

TY - JOUR

T1 - Two cases of Legg–Perthes and intellectual disability in Tricho–Rhino–Phalangeal syndrome type 1 associated with novel TRPS1 mutations

AU - Gilman, Jordana L.

AU - Newman, Heather A.

AU - Freeman, Rebecca

AU - Singh, Kathryn E.

AU - Puckett, Rebecca L.

AU - Morohashi, David K.

AU - Stein, Constance

AU - Palomino, Kathryn

AU - Lebel, Robert Roger

AU - Kimonis, Virginia E.

PY - 2017/6

Y1 - 2017/6

KW - cone shaped epiphyses

KW - Legg–Perthes

KW - Tricho–Rhino–Phalangeal syndrome type 1

KW - TRPS1

UR - https://www.scopus.com/pages/publications/85014134965

UR - https://www.scopus.com/pages/publications/85014134965#tab=citedBy

U2 - 10.1002/ajmg.a.38204

DO - 10.1002/ajmg.a.38204

M3 - Article

C2 - 28256045

AN - SCOPUS:85014134965

SN - 1552-4825

VL - 173

SP - 1663

EP - 1667

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 6

ER -

Two cases of Legg–Perthes and intellectual disability in Tricho–Rhino–Phalangeal syndrome type 1 associated with novel TRPS1 mutations

ASJC Scopus Subject Areas

Keywords

Access to Document

Other files and links

Cite this