De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

Reijnders, MRF (author)

Zachariadis, V (author)

Karolinska Institutet

Latour, B (author)

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Jolly, L (author)

Mancini, GM (author)

Pfundt, R (author)

Wu, KM (author)

van Ravenswaaij-Arts, CMA (author)

Veenstra-Knol, HE (author)

Anderlid, BMM (author)

Wood, SA (author)

Cheung, SW (author)

Barnicoat, A (author)

Probst, F (author)

Magoulas, P (author)

Brooks, AS (author)

Malmgren, H (author)

Karolinska Institutet

Harila-Saari, A (author)

Karolinska Institutet

Marcelis, CM (author)

Vreeburg, M (author)

Hobson, E (author)

Sutton, VR (author)

Stark, Z (author)

Vogt, J (author)

Cooper, N (author)

Lim, JY (author)

Price, S (author)

Lai, AHM (author)

Domingo, D (author)

Reversade, B (author)

Gecz, J (author)

Gilissen, C (author)

Brunner, HG (author)

Kini, U (author)

Roepman, R (author)

Nordgren, A (author)

Karolinska Institutet

Kleefstra, T (author)

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 (creator_code:org_t)

Elsevier BV, 2016

2016

English.

In: American journal of human genetics. - : Elsevier BV. - 1537-6605 .- 0002-9297. ; 98:2, s. 373-381

Related links:

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https://doi.org/10.1...

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• Journal article (peer-reviewed)