Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations. Mercier, S., Küry, S., Salort-Campana, E., Magot, A., Agbim, U., Besnard, T., Bodak, N., Bou-Hanna, C., Bréhéret, F., Brunelle, P., Caillon, F., Chabrol, B., Cormier-Daire, V., David, A., Eymard, B., Faivre, L., Figarella-Branger, D., Fleurence, E., Ganapathi, M., Gherardi, R., Goldenberg, A., Hamel, A., Igual, J., Irvine, A. D., Israël-Biet, D., Kannengiesser, C., Laboisse, C., Le Caignec, C., Mahé, J., Mallet, S., MacGowan, S., McAleer, M. A., McLean, I., Méni, C., Munnich, A., Mussini, J., Nagy, P. L., Odel, J., O’Regan, G. M., Péréon, Y., Perrier, J., Piard, J., Puzenat, E., Sampson, J. B., Smith, F., Soufir, N., Tanji, K., Thauvin, C., Ulane, C., Watson, R. M., Khumalo, N. P., Mayosi, B. M., Barbarot, S., & Bézieau, S. Orphanet Journal of Rare Diseases, 10:135, October, 2015.

Paper doi abstract bibtex

Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in five families, we identified the causative gene, FAM111B (NM_198947.3), the function of which is still unknown. Our objective in this study was to better define the specific features of POIKTMP through a larger series of patients.

@article{mercier_expanding_2015,
	title = {Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to {FAM}111B mutations},
	volume = {10},
	issn = {1750-1172},
	url = {http://dx.doi.org/10.1186/s13023-015-0352-4},
	doi = {10.1186/s13023-015-0352-4},
	abstract = {Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in five families, we identified the causative gene, FAM111B (NM\_198947.3), the function of which is still unknown. Our objective in this study was to better define the specific features of POIKTMP through a larger series of patients.},
	urldate = {2016-01-25},
	journal = {Orphanet Journal of Rare Diseases},
	author = {Mercier, Sandra and Küry, Sébastien and Salort-Campana, Emmanuelle and Magot, Armelle and Agbim, Uchenna and Besnard, Thomas and Bodak, Nathalie and Bou-Hanna, Chantal and Bréhéret, Flora and Brunelle, Perrine and Caillon, Florence and Chabrol, Brigitte and Cormier-Daire, Valérie and David, Albert and Eymard, Bruno and Faivre, Laurence and Figarella-Branger, Dominique and Fleurence, Emmanuelle and Ganapathi, Mythily and Gherardi, Romain and Goldenberg, Alice and Hamel, Antoine and Igual, Jeanine and Irvine, Alan D. and Israël-Biet, Dominique and Kannengiesser, Caroline and Laboisse, Christian and Le Caignec, Cédric and Mahé, Jean-Yves and Mallet, Stéphanie and MacGowan, Stuart and McAleer, Maeve A. and McLean, Irwin and Méni, Cécile and Munnich, Arnold and Mussini, Jean-Marie and Nagy, Peter L. and Odel, Jeffrey and O’Regan, Grainne M. and Péréon, Yann and Perrier, Julie and Piard, Juliette and Puzenat, Eve and Sampson, Jacinda B. and Smith, Frances and Soufir, Nadem and Tanji, Kurenai and Thauvin, Christel and Ulane, Christina and Watson, Rosemarie M. and Khumalo, Nonhlanhla P. and Mayosi, Bongani M. and Barbarot, Sébastien and Bézieau, Stéphane},
	month = oct,
	year = {2015},
	keywords = {Adiposis, Contractures, DAG, Myopathy, Poikiloderma, Pulmonary fibrosis},
	pages = {135}
}

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