Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes

A. Verloes; D. Haye; A. Toutain; D. Bonneau; I. Kibaek Nielsen; I. Bay Lund; P. Bogaard; S. Leenskjold; K. Karaer; K. T. Wild; K. L. Grand; M. C. Astiazaran; L. A. Gonzalez-Nieto; A. Carvalho; D. Lehalle; S. M. Amudhavalli; E. Repnikova; C. Saunders; I. Thiffault; I. Thiffault; I. Saadi; D. Li; H. Hakonarson; Y. Vial; E. Zackai; P. Callier; S. Drunat; E. E. Bhoj

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes

A. Verloes, D. Haye, A. Toutain, D. Bonneau, I. Kibaek Nielsen, I. Bay Lund, P. Bogaard, S. Leenskjold, K. Karaer, K. T. Wild, K. L. Grand, M. C. Astiazaran, L. A. Gonzalez-Nieto, A. Carvalho, D. Lehalle, S. M. Amudhavalli, E. Repnikova, C. Saunders, I. Thiffault, I. ThiffaultI. Saadi, D. Li, H. Hakonarson, Y. Vial, E. Zackai, P. Callier, S. Drunat, E. E. Bhoj

Publikation: Bidrag til tidsskrift › Konferenceabstrakt i tidsskrift › Forskning › peer review

Originalsprog	Engelsk
Tidsskrift	European Journal of Human Genetics
Vol/bind	27
Udgave nummer	Suppl. 2
Sider (fra-til)	1517-1518
Antal sider	2
ISSN	1018-4813
Status	Udgivet - okt. 2019
Begivenhed	52th Conference of the European Society of Human Genetics (ESHG) - Göteborg, Sverige Varighed: 15 jun. 2019 → 18 jun. 2019 Konferencens nummer: 52 https://2019.eshg.org/

Konference

Konference	52th Conference of the European Society of Human Genetics (ESHG)
Nummer	52
Land/Område	Sverige
By	Göteborg
Periode	15/06/2019 → 18/06/2019
Internetadresse	https://2019.eshg.org/

Adgang til dokumentet

https://www.nature.com/articles/s41431-019-0494-2

AUB Link

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Citationsformater

Verloes, A., Haye, D., Toutain, A., Bonneau, D., Nielsen, I. K., Lund, I. B., Bogaard, P., Leenskjold, S., Karaer, K., Wild, K. T., Grand, K. L., Astiazaran, M. C., Gonzalez-Nieto, L. A., Carvalho, A., Lehalle, D., Amudhavalli, S. M., Repnikova, E., Saunders, C., Thiffault, I., ... Bhoj, E. E. (2019). Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes. European Journal of Human Genetics, 27(Suppl. 2), 1517-1518. https://www.nature.com/articles/s41431-019-0494-2

@article{9ad863804bc54e18b5692802983de0ae,

title = "Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes",

author = "A. Verloes and D. Haye and A. Toutain and D. Bonneau and Nielsen, \{I. Kibaek\} and Lund, \{I. Bay\} and P. Bogaard and S. Leenskjold and K. Karaer and Wild, \{K. T.\} and Grand, \{K. L.\} and Astiazaran, \{M. C.\} and Gonzalez-Nieto, \{L. A.\} and A. Carvalho and D. Lehalle and Amudhavalli, \{S. M.\} and E. Repnikova and C. Saunders and I. Thiffault and I. Thiffault and I. Saadi and D. Li and H. Hakonarson and Y. Vial and E. Zackai and P. Callier and S. Drunat and Bhoj, \{E. E.\}",

year = "2019",

month = oct,

language = "English",

volume = "27",

pages = "1517--1518",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer",

number = "Suppl. 2",

note = "52th Conference of the European Society of Human Genetics (ESHG) ; Conference date: 15-06-2019 Through 18-06-2019",

url = "https://2019.eshg.org/",

}

Verloes, A, Haye, D, Toutain, A, Bonneau, D, Nielsen, IK, Lund, IB, Bogaard, P , Leenskjold, S, Karaer, K, Wild, KT, Grand, KL, Astiazaran, MC, Gonzalez-Nieto, LA, Carvalho, A, Lehalle, D, Amudhavalli, SM, Repnikova, E, Saunders, C, Thiffault, I, Thiffault, I, Saadi, I, Li, D, Hakonarson, H, Vial, Y, Zackai, E, Callier, P, Drunat, S & Bhoj, EE 2019, 'Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes', European Journal of Human Genetics, bind 27, nr. Suppl. 2, s. 1517-1518. <https://www.nature.com/articles/s41431-019-0494-2>

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes. / Verloes, A.; Haye, D.; Toutain, A. et al.
I: European Journal of Human Genetics, Bind 27, Nr. Suppl. 2, 10.2019, s. 1517-1518.

Publikation: Bidrag til tidsskrift › Konferenceabstrakt i tidsskrift › Forskning › peer review

TY - ABST

T1 - Phenotypic spectrum associated with SPECC1L pathogenic variants

T2 - 52th Conference of the European Society of Human Genetics (ESHG)

AU - Verloes, A.

AU - Haye, D.

AU - Toutain, A.

AU - Bonneau, D.

AU - Nielsen, I. Kibaek

AU - Lund, I. Bay

AU - Bogaard, P.

AU - Leenskjold, S.

AU - Karaer, K.

AU - Wild, K. T.

AU - Grand, K. L.

AU - Astiazaran, M. C.

AU - Gonzalez-Nieto, L. A.

AU - Carvalho, A.

AU - Lehalle, D.

AU - Amudhavalli, S. M.

AU - Repnikova, E.

AU - Saunders, C.

AU - Thiffault, I.

AU - Saadi, I.

AU - Li, D.

AU - Hakonarson, H.

AU - Vial, Y.

AU - Zackai, E.

AU - Callier, P.

AU - Drunat, S.

AU - Bhoj, E. E.

N1 - Conference code: 52

PY - 2019/10

Y1 - 2019/10

M3 - Conference abstract in journal

SN - 1018-4813

VL - 27

SP - 1517

EP - 1518

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - Suppl. 2

Y2 - 15 June 2019 through 18 June 2019

ER -