Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

C Michot; C Le Goff; E Blair; P Blanchet; Y Capri; B Gilbert-Dussardier; A Goldenberg; A Henderson; B Isidor; H Kayserili; E Kinning; M Le Merrer; S Lyonnet; S Odent; PO Simsek-Kiper; C Quelin; R Savarirayan; M Simon; M Splitt; Judith Verhagen; A Verloese; A Munnich; G Baujat; V Cormier-Daire

doi:10.1038/s41431-018-0135-1

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

C Michot, C Le Goff, E Blair, P Blanchet, Y Capri, B Gilbert-Dussardier, A Goldenberg, A Henderson, B Isidor, H Kayserili, E Kinning, M Le Merrer, S Lyonnet, S Odent, PO Simsek-Kiper, C Quelin, R Savarirayan, M Simon, M Splitt, Judith VerhagenA Verloese, A Munnich, G Baujat, V Cormier-Daire

Clinical Genetics

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

21 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	1611-1622
Number of pages	12
Journal	European Journal of Human Genetics
Volume	26
Issue number	11
DOIs	https://doi.org/10.1038/s41431-018-0135-1
Publication status	Published - 2018

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EMC OR-01

Access to Document

10.1038/s41431-018-0135-1

http://hdl.handle.net/1765/109344

Cite this

Michot, C., Le Goff, C., Blair, E., Blanchet, P., Capri, Y., Gilbert-Dussardier, B., Goldenberg, A., Henderson, A., Isidor, B., Kayserili, H., Kinning, E., Le Merrer, M., Lyonnet, S., Odent, S., Simsek-Kiper, PO., Quelin, C., Savarirayan, R., Simon, M., Splitt, M., ... Cormier-Daire, V. (2018). Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia. European Journal of Human Genetics, 26(11), 1611-1622. https://doi.org/10.1038/s41431-018-0135-1

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Michot, C, Le Goff, C, Blair, E, Blanchet, P, Capri, Y, Gilbert-Dussardier, B, Goldenberg, A, Henderson, A, Isidor, B, Kayserili, H, Kinning, E, Le Merrer, M, Lyonnet, S, Odent, S, Simsek-Kiper, PO, Quelin, C, Savarirayan, R, Simon, M, Splitt, M, Verhagen, J, Verloese, A, Munnich, A, Baujat, G & Cormier-Daire, V 2018, 'Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia', European Journal of Human Genetics, vol. 26, no. 11, pp. 1611-1622. https://doi.org/10.1038/s41431-018-0135-1

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T1 - Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

AU - Michot, C

AU - Le Goff, C

AU - Blair, E

AU - Blanchet, P

AU - Capri, Y

AU - Gilbert-Dussardier, B

AU - Goldenberg, A

AU - Henderson, A

AU - Isidor, B

AU - Kayserili, H

AU - Kinning, E

AU - Le Merrer, M

AU - Lyonnet, S

AU - Odent, S

AU - Simsek-Kiper, PO

AU - Quelin, C

AU - Savarirayan, R

AU - Simon, M

AU - Splitt, M

AU - Verhagen, Judith

AU - Verloese, A

AU - Munnich, A

AU - Baujat, G

AU - Cormier-Daire, V

PY - 2018

Y1 - 2018

U2 - 10.1038/s41431-018-0135-1

DO - 10.1038/s41431-018-0135-1

M3 - Article

C2 - 30006632

SN - 1018-4813

VL - 26

SP - 1611

EP - 1622

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 11

ER -