Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

Y Sun; B Bak; N Schoenmakers; ASP van Trotsenburg; W (Wilma) Oostdijk; P Voshol; E Cambridge; JK White; P le Tissier; SNM Gharavy; JP Martinez-Barbera; WH Stokvis-Brantsma; T Vulsma; MJ Kempers; L Persani; I Campi; M Bonomi; P Beck-Peccoz; H Zhu; TME Davis; Anita Hokken - Koelega; Darya Gorbenko del Blanco; J Rangasami; CAL Ruivenkamp; JFJ Laros; M Kriek; CAJ Bosch; NR Biermasz; NM Appelman-Dijkstra; EP Corssmit; GC Hovens; AM Pereira; JT Dunnen; M Wade; MH Breuning; RCM Hennekam; K Chatterjee; M Dattani; JM Wit; DJ Bernard

doi:10.1038/ng.2453

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

Y Sun, B Bak, N Schoenmakers, ASP van Trotsenburg, W (Wilma) Oostdijk, P Voshol, E Cambridge, JK White, P le Tissier, SNM Gharavy, JP Martinez-Barbera, WH Stokvis-Brantsma, T Vulsma, MJ Kempers, L Persani, I Campi, M Bonomi, P Beck-Peccoz, H Zhu, TME DavisAnita Hokken - Koelega, Darya Gorbenko del Blanco, J Rangasami, CAL Ruivenkamp, JFJ Laros, M Kriek, CAJ Bosch, NR Biermasz, NM Appelman-Dijkstra, EP Corssmit, GC Hovens, AM Pereira, JT Dunnen, M Wade, MH Breuning, RCM Hennekam, K Chatterjee, M Dattani, JM Wit, DJ Bernard

Pediatrics

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

177 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	1375
Journal	Nature Genetics
Volume	44
Issue number	12
DOIs	https://doi.org/10.1038/ng.2453
Publication status	Published - 2012

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EMC MM-01-54-01

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10.1038/ng.2453

http://hdl.handle.net/1765/57094

Cite this

Sun, Y., Bak, B., Schoenmakers, N., van Trotsenburg, ASP., Oostdijk, W., Voshol, P., Cambridge, E., White, JK., le Tissier, P., Gharavy, SNM., Martinez-Barbera, JP., Stokvis-Brantsma, WH., Vulsma, T., Kempers, MJ., Persani, L., Campi, I., Bonomi, M., Beck-Peccoz, P., Zhu, H., ... Bernard, DJ. (2012). Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nature Genetics, 44(12), 1375. https://doi.org/10.1038/ng.2453

@article{097884c93db14343bb43f096fc874342,

title = "Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement",

author = "Y Sun and B Bak and N Schoenmakers and {van Trotsenburg}, ASP and Oostdijk, {W (Wilma)} and P Voshol and E Cambridge and JK White and {le Tissier}, P and SNM Gharavy and JP Martinez-Barbera and WH Stokvis-Brantsma and T Vulsma and MJ Kempers and L Persani and I Campi and M Bonomi and P Beck-Peccoz and H Zhu and TME Davis and {Hokken - Koelega}, Anita and {Gorbenko del Blanco}, Darya and J Rangasami and CAL Ruivenkamp and JFJ Laros and M Kriek and CAJ Bosch and NR Biermasz and NM Appelman-Dijkstra and EP Corssmit and GC Hovens and AM Pereira and JT Dunnen and M Wade and MH Breuning and RCM Hennekam and K Chatterjee and M Dattani and JM Wit and DJ Bernard",

year = "2012",

doi = "10.1038/ng.2453",

language = "Undefined/Unknown",

volume = "44",

pages = "1375",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

number = "12",

}

Sun, Y, Bak, B, Schoenmakers, N, van Trotsenburg, ASP, Oostdijk, W, Voshol, P, Cambridge, E, White, JK, le Tissier, P, Gharavy, SNM, Martinez-Barbera, JP, Stokvis-Brantsma, WH, Vulsma, T, Kempers, MJ, Persani, L, Campi, I, Bonomi, M, Beck-Peccoz, P, Zhu, H, Davis, TME, Hokken - Koelega, A, Gorbenko del Blanco, D, Rangasami, J, Ruivenkamp, CAL, Laros, JFJ, Kriek, M, Bosch, CAJ, Biermasz, NR, Appelman-Dijkstra, NM, Corssmit, EP, Hovens, GC, Pereira, AM, Dunnen, JT, Wade, M, Breuning, MH, Hennekam, RCM, Chatterjee, K, Dattani, M, Wit, JM & Bernard, DJ 2012, 'Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement', Nature Genetics, vol. 44, no. 12, pp. 1375. https://doi.org/10.1038/ng.2453

TY - JOUR

T1 - Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

AU - Sun, Y

AU - Bak, B

AU - Schoenmakers, N

AU - van Trotsenburg, ASP

AU - Oostdijk, W (Wilma)

AU - Voshol, P

AU - Cambridge, E

AU - White, JK

AU - le Tissier, P

AU - Gharavy, SNM

AU - Martinez-Barbera, JP

AU - Stokvis-Brantsma, WH

AU - Vulsma, T

AU - Kempers, MJ

AU - Persani, L

AU - Campi, I

AU - Bonomi, M

AU - Beck-Peccoz, P

AU - Zhu, H

AU - Davis, TME

AU - Hokken - Koelega, Anita

AU - Gorbenko del Blanco, Darya

AU - Rangasami, J

AU - Ruivenkamp, CAL

AU - Laros, JFJ

AU - Kriek, M

AU - Bosch, CAJ

AU - Biermasz, NR

AU - Appelman-Dijkstra, NM

AU - Corssmit, EP

AU - Hovens, GC

AU - Pereira, AM

AU - Dunnen, JT

AU - Wade, M

AU - Breuning, MH

AU - Hennekam, RCM

AU - Chatterjee, K

AU - Dattani, M

AU - Wit, JM

AU - Bernard, DJ

PY - 2012

Y1 - 2012

U2 - 10.1038/ng.2453

DO - 10.1038/ng.2453

M3 - Article

C2 - 23143598

SN - 1061-4036

VL - 44

SP - 1375

JO - Nature Genetics

JF - Nature Genetics

IS - 12

ER -