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Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder.
Fradin, M; Merklen-Djafri, C; Perrigouard, C; Aral, B; Muller, J; Stoetzel, C; Frouin, E; Flori, E; Doray, B; Dollfus, H; Lipsker, D.
Affiliation
  • Fradin M; Service de Génétique Médicale, CHU de Rennes; Rennes, France.
Dermatology ; 226(4): 353-7, 2013.
Article in En | MEDLINE | ID: mdl-23899764

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Anal Canal / Patella / Pigmentation Disorders / Rothmund-Thomson Syndrome / Radius / Thumb / Abnormalities, Multiple / Limb Deformities, Congenital / Dwarfism / Alopecia Limits: Adult / Child / Humans / Male / Newborn Language: En Journal: Dermatology Journal subject: DERMATOLOGIA Year: 2013 Document type: Article Affiliation country: Francia Country of publication: Suiza

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Anal Canal / Patella / Pigmentation Disorders / Rothmund-Thomson Syndrome / Radius / Thumb / Abnormalities, Multiple / Limb Deformities, Congenital / Dwarfism / Alopecia Limits: Adult / Child / Humans / Male / Newborn Language: En Journal: Dermatology Journal subject: DERMATOLOGIA Year: 2013 Document type: Article Affiliation country: Francia Country of publication: Suiza