Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders

Dominyka Batkovskyte; Fiona McKenzie; Fulya Taylan; Pelin Ozlem Simsek-Kiper; Sarah M. Nikkel; Hirofumi Ohashi; Hiroyuki Miyahara; Gustaw Eriksson; Thuong Ha; Gulen Eda Utine; Tillie Chiu; Kenji Shimizu; Anna Hammarsjo; Koray Boduroglu; Peer Arts; Milena Babic; Matilda R. Jackson; Nikos Papadogiannakis; Anna Lindstrand; Ann Nordgren; Christopher P. Barnett; Hamish S. Scott; Andrei S. Chagin; Gen Nishimura; Giedre Grigelioniene

Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders

Dominyka Batkovskyte, Fiona McKenzie, Fulya Taylan, Pelin Ozlem Simsek-Kiper, Sarah M. Nikkel, Hirofumi Ohashi, Hiroyuki Miyahara, Gustaw Eriksson, Thuong Ha, Gulen Eda Utine, Tillie Chiu, Kenji Shimizu, Anna Hammarsjo, Koray Boduroglu, Peer Arts, Milena Babic, Matilda R. Jackson, Nikos Papadogiannakis, Anna Lindstrand, Ann NordgrenChristopher P. Barnett, Hamish S. Scott, Andrei S. Chagin, Gen Nishimura, Giedre Grigelioniene

Paediatrics

Research output: Contribution to journal › Abstract/Meeting Abstract › peer-review

Original language	English
Pages (from-to)	41-42
Number of pages	2
Journal	European Journal of Human Genetics
Volume	30
Issue number	SUPPL 1
Publication status	Published - Apr 2022

1 Article

Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders
Batkovskyte, D., McKenzie, F., Taylan, F., Simsek-Kiper, P. O., Nikkel, S. M., Ohashi, H., Stevenson, R. E., Ha, T., Cavalcanti, D. P., Miyahara, H., Skinner, S. A., Aguirre, M. A., Akçören, Z., Utine, G. E., Chiu, T., Shimizu, K., Hammarsjö, A., Boduroglu, K., Moore, H. W. & Louie, R. J. & 12 others, Arts, P., Merrihew, A. N., Babic, M., Jackson, M. R., Papadogiannakis, N., Lindstrand, A., Nordgren, A., Barnett, C. P., Scott, H. S., Chagin, A. S., Nishimura, G. & Grigelioniene, G., May 2023, In: Journal of Bone and Mineral Research. 38, 5, p. 692-706 15 p.
Research output: Contribution to journal › Article › peer-review

Open Access
7 Citations (Scopus)

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Batkovskyte, D., McKenzie, F., Taylan, F., Simsek-Kiper, P. O., Nikkel, S. M., Ohashi, H., Miyahara, H., Eriksson, G., Ha, T., Utine, G. E., Chiu, T., Shimizu, K., Hammarsjo, A., Boduroglu, K., Arts, P., Babic, M., Jackson, M. R., Papadogiannakis, N., Lindstrand, A., ... Grigelioniene, G. (2022). Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders. European Journal of Human Genetics, 30(SUPPL 1), 41-42.

@article{cc910da353bd448db3434889872901f9,

title = "Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders",

author = "Dominyka Batkovskyte and Fiona McKenzie and Fulya Taylan and Simsek-Kiper, {Pelin Ozlem} and Nikkel, {Sarah M.} and Hirofumi Ohashi and Hiroyuki Miyahara and Gustaw Eriksson and Thuong Ha and Utine, {Gulen Eda} and Tillie Chiu and Kenji Shimizu and Anna Hammarsjo and Koray Boduroglu and Peer Arts and Milena Babic and Jackson, {Matilda R.} and Nikos Papadogiannakis and Anna Lindstrand and Ann Nordgren and Barnett, {Christopher P.} and Scott, {Hamish S.} and Chagin, {Andrei S.} and Gen Nishimura and Giedre Grigelioniene",

year = "2022",

month = apr,

language = "English",

volume = "30",

pages = "41--42",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group - Macmillan Publishers",

number = "SUPPL 1",

}

Batkovskyte, D, McKenzie, F, Taylan, F, Simsek-Kiper, PO, Nikkel, SM, Ohashi, H, Miyahara, H, Eriksson, G, Ha, T, Utine, GE, Chiu, T, Shimizu, K, Hammarsjo, A, Boduroglu, K, Arts, P, Babic, M, Jackson, MR, Papadogiannakis, N, Lindstrand, A, Nordgren, A, Barnett, CP, Scott, HS, Chagin, AS, Nishimura, G & Grigelioniene, G 2022, 'Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders', European Journal of Human Genetics, vol. 30, no. SUPPL 1, pp. 41-42.

TY - JOUR

T1 - Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders

AU - Batkovskyte, Dominyka

AU - McKenzie, Fiona

AU - Taylan, Fulya

AU - Simsek-Kiper, Pelin Ozlem

AU - Nikkel, Sarah M.

AU - Ohashi, Hirofumi

AU - Miyahara, Hiroyuki

AU - Eriksson, Gustaw

AU - Ha, Thuong

AU - Utine, Gulen Eda

AU - Chiu, Tillie

AU - Shimizu, Kenji

AU - Hammarsjo, Anna

AU - Boduroglu, Koray

AU - Arts, Peer

AU - Babic, Milena

AU - Jackson, Matilda R.

AU - Papadogiannakis, Nikos

AU - Lindstrand, Anna

AU - Nordgren, Ann

AU - Barnett, Christopher P.

AU - Scott, Hamish S.

AU - Chagin, Andrei S.

AU - Nishimura, Gen

AU - Grigelioniene, Giedre

PY - 2022/4

Y1 - 2022/4

M3 - Abstract/Meeting Abstract

SN - 1018-4813

VL - 30

SP - 41

EP - 42

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - SUPPL 1

ER -

Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders

Research output

Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders

Cite this