title: Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation.
authors: Service de pédiatrie, American Memorial Hospital, CHU de Reims, Reims, France.
authors: M A
authors: MA
authors: Cossiez Cacard
authors: Service de dermatologie, Centre de référence des maladies génétiques à expression cutanée, Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes - Sorbonne Paris Cité, Paris, France.
authors: J
authors: J
authors: Coulombe
authors: Service de dermatologie, Hôpital Robert Debré, CHU de Reims, Reims, France.
authors: P
authors: P
authors: Bernard
authors: INSERM U1163, Hospital Necker-Enfants Malades, University Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris, France.
authors: N
authors: N
authors: Kaci
authors: Service de dermatologie, Centre hospitalier de Troyes, Troyes, France.
authors: J M
authors: JM
authors: Bressieux
authors: Service de pédiatrie, American Memorial Hospital, CHU de Reims, Reims, France.
authors: P F
authors: PF
authors: Souchon
authors: Service de pédiatrie, American Memorial Hospital, CHU de Reims, Reims, France.
authors: J
authors: J
authors: Motte
authors: INSERM U1163, Hospital Necker-Enfants Malades, University Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris, France.
authors: L
authors: L
authors: Legeai-Mallet
authors: Service de dermatologie, Centre de référence des maladies génétiques à expression cutanée, Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes - Sorbonne Paris Cité, Paris, France.|INSERM U1163, Hospital Necker-Enfants Malades, University Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris, France.
authors: S
authors: S
authors: Hadj-Rabia
authors: Service de dermatologie, Hôpital Robert Debré, CHU de Reims, Reims, France.
authors: C
authors: C
authors: Eschard
mesh_terms: D000052:Acanthosis Nigricans / Q000235:genetics*; D000293:Adolescent; D001842:Bone and Bones / Q000002:abnormalities*; D004392:Dwarfism / Q000235:genetics*; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008141:Lordosis / Q000235:genetics*; D008297:Male; D009154:Mutation; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*
chemical_list: C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3