Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features

Iris Hollink; M Alfadhel; A S Al-Wakeel; F Ababneh; R Pfundt; Stella Man; R Abou Jamra; A Rolfs; AM Bertoli Avella; Ingrid De Graaf - van de Laar

doi:10.1038/jhg.2015.134

Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features

Iris Hollink, M Alfadhel, A S Al-Wakeel, F Ababneh, R Pfundt, Stella Man, R Abou Jamra, A Rolfs, AM Bertoli Avella, Ingrid De Graaf - van de Laar

Clinical Genetics

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

23 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	229-233
Number of pages	5
Journal	Journal of Human Genetics
Volume	61
Issue number	3
DOIs	https://doi.org/10.1038/jhg.2015.134
Publication status	Published - 2016

Research programs

EMC MGC-02-96-01

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10.1038/jhg.2015.134

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Hollink, I., Alfadhel, M., Al-Wakeel, A. S., Ababneh, F., Pfundt, R., Man, S., Abou Jamra, R., Rolfs, A., Bertoli Avella, AM., & De Graaf - van de Laar, I. (2016). Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features. Journal of Human Genetics, 61(3), 229-233. https://doi.org/10.1038/jhg.2015.134

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Hollink, I, Alfadhel, M, Al-Wakeel, AS, Ababneh, F, Pfundt, R, Man, S, Abou Jamra, R, Rolfs, A, Bertoli Avella, AM & De Graaf - van de Laar, I 2016, 'Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features', Journal of Human Genetics, vol. 61, no. 3, pp. 229-233. https://doi.org/10.1038/jhg.2015.134

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T1 - Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features

AU - Hollink, Iris

AU - Alfadhel, M

AU - Al-Wakeel, A S

AU - Ababneh, F

AU - Pfundt, R

AU - Man, Stella

AU - Abou Jamra, R

AU - Rolfs, A

AU - Bertoli Avella, AM

AU - De Graaf - van de Laar, Ingrid

PY - 2016

Y1 - 2016

U2 - 10.1038/jhg.2015.134

DO - 10.1038/jhg.2015.134

M3 - Article

C2 - 26607181

SN - 1434-5161

VL - 61

SP - 229

EP - 233

JO - Journal of Human Genetics

JF - Journal of Human Genetics

IS - 3

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