Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism

JE Murray; Mirjam van der Burg; Hanna Ijspeert; P Carroll; Qinh Wu; T Ochi; A Leitch; ES Miller; B Kysela; A (Aianta) Jawad; A Bottani; F Brancati; M Cappa; V Cormier-Daire; C Deshpande; EA Faqeih; GE Graham; E Ranza; TL Blundell; AP Jackson; GS Stewart; LS Bicknell

doi:10.1016/j.ajhg.2015.01.013

Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism

JE Murray
, Mirjam van der Burg
, Hanna Ijspeert
, P Carroll
, Qinh Wu
, T Ochi
, A Leitch
, ES Miller
, B Kysela
, A (Aianta) Jawad
, A Bottani
, F Brancati
, M Cappa
, V Cormier-Daire
, C Deshpande
, EA Faqeih
, GE Graham
, E Ranza
, TL Blundell
, AP Jackson

GS Stewart, LS Bicknell

Immunology

External organisation

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

73 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	412-424
Number of pages	13
Journal	American Journal of Human Genetics
Volume	96
Issue number	3
DOIs	https://doi.org/10.1016/j.ajhg.2015.01.013
Publication status	Published - 2015

Research programs

EMC MM-02-72-01
EMC MM-04-54-08-A

Access to Document

10.1016/j.ajhg.2015.01.013

Cite this

Murray, JE., van der Burg, M., Ijspeert, H., Carroll, P., Wu, Q., Ochi, T., Leitch, A., Miller, ES., Kysela, B., Jawad, A., Bottani, A., Brancati, F., Cappa, M., Cormier-Daire, V., Deshpande, C., Faqeih, EA., Graham, GE., Ranza, E., Blundell, TL., ... Bicknell, LS. (2015). Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism. American Journal of Human Genetics, 96(3), 412-424. https://doi.org/10.1016/j.ajhg.2015.01.013

@article{ceb3520832fe4e5ba1912ead9d2c06fe,

title = "Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism",

author = "JE Murray and \{van der Burg\}, Mirjam and Hanna Ijspeert and P Carroll and Qinh Wu and T Ochi and A Leitch and ES Miller and B Kysela and Jawad, \{A (Aianta)\} and A Bottani and F Brancati and M Cappa and V Cormier-Daire and C Deshpande and EA Faqeih and GE Graham and E Ranza and TL Blundell and AP Jackson and GS Stewart and LS Bicknell",

year = "2015",

doi = "10.1016/j.ajhg.2015.01.013",

language = "Undefined/Unknown",

volume = "96",

pages = "412--424",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "3",

}

Murray, JE, van der Burg, M, Ijspeert, H, Carroll, P, Wu, Q, Ochi, T, Leitch, A, Miller, ES, Kysela, B, Jawad, A, Bottani, A, Brancati, F, Cappa, M, Cormier-Daire, V, Deshpande, C, Faqeih, EA, Graham, GE, Ranza, E, Blundell, TL, Jackson, AP, Stewart, GS & Bicknell, LS 2015, 'Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism', American Journal of Human Genetics, vol. 96, no. 3, pp. 412-424. https://doi.org/10.1016/j.ajhg.2015.01.013

TY - JOUR

T1 - Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism

AU - Murray, JE

AU - van der Burg, Mirjam

AU - Ijspeert, Hanna

AU - Carroll, P

AU - Wu, Qinh

AU - Ochi, T

AU - Leitch, A

AU - Miller, ES

AU - Kysela, B

AU - Jawad, A (Aianta)

AU - Bottani, A

AU - Brancati, F

AU - Cappa, M

AU - Cormier-Daire, V

AU - Deshpande, C

AU - Faqeih, EA

AU - Graham, GE

AU - Ranza, E

AU - Blundell, TL

AU - Jackson, AP

AU - Stewart, GS

AU - Bicknell, LS

PY - 2015

Y1 - 2015

U2 - 10.1016/j.ajhg.2015.01.013

DO - 10.1016/j.ajhg.2015.01.013

M3 - Article

C2 - 25728776

SN - 0002-9297

VL - 96

SP - 412

EP - 424

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 3

ER -