Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and plumonary fibrosis

S Mercier; S Kury; G Shaboodien; DT Houniet; NP Khumalo; C Bou-Hanna; N Bodak; V Cormier-Daire; A David; L Falvre; D Figarella-Branger; RK Gherardi; E Glen; A Hamel; C Laboisse; Caignec C La; P Lindenbaum; A Magot; A Munnich; JM Mussini; Komala Pillay; T Rahman; R Redon; E Salort-Campana; M Santibanez-Koref; C Thauvin; S Barbarot; Bernard Keavney; S Bezieau; BM Mayosi

doi:10.1016/j.ajhg.2013.10.013

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and plumonary fibrosis

S Mercier, S Kury, G Shaboodien, DT Houniet, NP Khumalo, C Bou-Hanna, N Bodak, V Cormier-Daire, A David, L Falvre, D Figarella-Branger, RK Gherardi, E Glen, A Hamel, C Laboisse, Caignec C La, P Lindenbaum, A Magot, A Munnich, JM MussiniKomala Pillay, T Rahman, R Redon, E Salort-Campana, M Santibanez-Koref, C Thauvin, S Barbarot, Bernard Keavney, S Bezieau, BM Mayosi

Division of Cardiovascular Sciences (L5)

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

Original language	English
Pages (from-to)	1100-1107
Number of pages	7
Journal	American Journal of Human Genetics
Volume	93
Issue number	6
DOIs	https://doi.org/10.1016/j.ajhg.2013.10.013
Publication status	Published - 5 Dec 2013

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10.1016/j.ajhg.2013.10.013

Cite this

Mercier, S., Kury, S., Shaboodien, G., Houniet, DT., Khumalo, NP., Bou-Hanna, C., Bodak, N., Cormier-Daire, V., David, A., Falvre, L., Figarella-Branger, D., Gherardi, RK., Glen, E., Hamel, A., Laboisse, C., La, C. C., Lindenbaum, P., Magot, A., Munnich, A., ... Mayosi, BM. (2013). Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and plumonary fibrosis. American Journal of Human Genetics, 93(6), 1100-1107. https://doi.org/10.1016/j.ajhg.2013.10.013

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title = "Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and plumonary fibrosis",

author = "S Mercier and S Kury and G Shaboodien and DT Houniet and NP Khumalo and C Bou-Hanna and N Bodak and V Cormier-Daire and A David and L Falvre and D Figarella-Branger and RK Gherardi and E Glen and A Hamel and C Laboisse and La, {Caignec C} and P Lindenbaum and A Magot and A Munnich and JM Mussini and Komala Pillay and T Rahman and R Redon and E Salort-Campana and M Santibanez-Koref and C Thauvin and S Barbarot and Bernard Keavney and S Bezieau and BM Mayosi",

year = "2013",

month = dec,

day = "5",

doi = "10.1016/j.ajhg.2013.10.013",

language = "English",

volume = "93",

pages = "1100--1107",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

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Mercier, S, Kury, S, Shaboodien, G, Houniet, DT, Khumalo, NP, Bou-Hanna, C, Bodak, N, Cormier-Daire, V, David, A, Falvre, L, Figarella-Branger, D, Gherardi, RK, Glen, E, Hamel, A, Laboisse, C, La, CC, Lindenbaum, P, Magot, A, Munnich, A, Mussini, JM, Pillay, K, Rahman, T, Redon, R, Salort-Campana, E, Santibanez-Koref, M, Thauvin, C, Barbarot, S, Keavney, B, Bezieau, S & Mayosi, BM 2013, 'Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and plumonary fibrosis', American Journal of Human Genetics, vol. 93, no. 6, pp. 1100-1107. https://doi.org/10.1016/j.ajhg.2013.10.013

TY - JOUR

T1 - Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and plumonary fibrosis

AU - Mercier, S

AU - Kury, S

AU - Shaboodien, G

AU - Houniet, DT

AU - Khumalo, NP

AU - Bou-Hanna, C

AU - Bodak, N

AU - Cormier-Daire, V

AU - David, A

AU - Falvre, L

AU - Figarella-Branger, D

AU - Gherardi, RK

AU - Glen, E

AU - Hamel, A

AU - Laboisse, C

AU - La, Caignec C

AU - Lindenbaum, P

AU - Magot, A

AU - Munnich, A

AU - Mussini, JM

AU - Pillay, Komala

AU - Rahman, T

AU - Redon, R

AU - Salort-Campana, E

AU - Santibanez-Koref, M

AU - Thauvin, C

AU - Barbarot, S

AU - Keavney, Bernard

AU - Bezieau, S

AU - Mayosi, BM

PY - 2013/12/5

Y1 - 2013/12/5

U2 - 10.1016/j.ajhg.2013.10.013

DO - 10.1016/j.ajhg.2013.10.013

M3 - Article

SN - 0002-9297

VL - 93

SP - 1100

EP - 1107

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 6

ER -