Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins

FS Jehee; VT de Oliveira; J Gurgel-Giannetti; RX Pietra; FVM Rubatino; NV Carobin; GS Vianna; ML de Freitas; KS Fernandes; BSV Ribeiro; HT Bruggenwirth; Roza Amin; JJ White; ZC Akdemir; SN Jhangiani; RA Gibbs; JR Lupski; MC Varela; C Koiffmann; C Rosenberg; CMB Carvalho

doi:10.1002/ajmg.a.38315

Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins

FS Jehee
, VT de Oliveira
, J Gurgel-Giannetti
, RX Pietra
, FVM Rubatino
, NV Carobin
, GS Vianna
, ML de Freitas
, KS Fernandes
, BSV Ribeiro
, HT Bruggenwirth
, Roza Amin
, JJ White
, ZC Akdemir
, SN Jhangiani
, RA Gibbs
, JR Lupski
, MC Varela
, C Koiffmann
, C Rosenberg

CMB Carvalho

Clinical Genetics

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

26 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	2451-2455
Number of pages	5
Journal	American Journal of Medical Genetics Part A
Volume	173
Issue number	9
DOIs	https://doi.org/10.1002/ajmg.a.38315
Publication status	Published - 2017

Research programs

EMC OR-01

Access to Document

10.1002/ajmg.a.38315

http://hdl.handle.net/1765/100691

Cite this

Jehee, FS., de Oliveira, VT., Gurgel-Giannetti, J., Pietra, RX., Rubatino, FVM., Carobin, NV., Vianna, GS., de Freitas, ML., Fernandes, KS., Ribeiro, BSV., Bruggenwirth, HT., Amin, R., White, JJ., Akdemir, ZC., Jhangiani, SN., Gibbs, RA., Lupski, JR., Varela, MC., Koiffmann, C., ... Carvalho, CMB. (2017). Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins. American Journal of Medical Genetics Part A, 173(9), 2451-2455. https://doi.org/10.1002/ajmg.a.38315

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title = "Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins",

author = "FS Jehee and \{de Oliveira\}, VT and J Gurgel-Giannetti and RX Pietra and FVM Rubatino and NV Carobin and GS Vianna and \{de Freitas\}, ML and KS Fernandes and BSV Ribeiro and HT Bruggenwirth and Roza Amin and JJ White and ZC Akdemir and SN Jhangiani and RA Gibbs and JR Lupski and MC Varela and C Koiffmann and C Rosenberg and CMB Carvalho",

year = "2017",

doi = "10.1002/ajmg.a.38315",

language = "Undefined/Unknown",

volume = "173",

pages = "2451--2455",

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

issn = "1552-4825",

publisher = "John Wiley \& Sons Inc.",

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Jehee, FS, de Oliveira, VT, Gurgel-Giannetti, J, Pietra, RX, Rubatino, FVM, Carobin, NV, Vianna, GS, de Freitas, ML, Fernandes, KS, Ribeiro, BSV, Bruggenwirth, HT, Amin, R, White, JJ, Akdemir, ZC, Jhangiani, SN, Gibbs, RA, Lupski, JR, Varela, MC, Koiffmann, C, Rosenberg, C & Carvalho, CMB 2017, 'Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins', American Journal of Medical Genetics Part A, vol. 173, no. 9, pp. 2451-2455. https://doi.org/10.1002/ajmg.a.38315

TY - JOUR

T1 - Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins

AU - Jehee, FS

AU - de Oliveira, VT

AU - Gurgel-Giannetti, J

AU - Pietra, RX

AU - Rubatino, FVM

AU - Carobin, NV

AU - Vianna, GS

AU - de Freitas, ML

AU - Fernandes, KS

AU - Ribeiro, BSV

AU - Bruggenwirth, HT

AU - Amin, Roza

AU - White, JJ

AU - Akdemir, ZC

AU - Jhangiani, SN

AU - Gibbs, RA

AU - Lupski, JR

AU - Varela, MC

AU - Koiffmann, C

AU - Rosenberg, C

AU - Carvalho, CMB

PY - 2017

Y1 - 2017

U2 - 10.1002/ajmg.a.38315

DO - 10.1002/ajmg.a.38315

M3 - Article

C2 - 28631899

SN - 1552-4825

VL - 173

SP - 2451

EP - 2455

JO - American Journal of Medical Genetics Part A

JF - American Journal of Medical Genetics Part A

IS - 9

ER -