A Girl With Marfanoid Habitus and Distinctive Orolabial Lesions.
Department of Dermatology, Hospital Universitari Son Espases, Palma de Mallorca, Spain.
Nicole
N
Knöpfel
Department of Dermatology, Hospital Universitari Son Espases, Palma de Mallorca, Spain.
Ana
A
Martín-Santiago
Department of Pediatrics, Hospital Universitari Son Espases, Palma de Mallorca, Spain.
Elsa
E
Puerto-Carranza
D000293:Adolescent; D000818:Animals; D001707:Biopsy, Needle; D004268:DNA-Binding Proteins / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D008046:Lip / Q000002:abnormalities / Q000473:pathology; D008382:Marfan Syndrome / Q000175:diagnosis; D009055:Mouth / Q000473:pathology / Q000503:physiopathology; D009061:Mouth Mucosa / Q000473:pathology / Q000503:physiopathology; D018814:Multiple Endocrine Neoplasia Type 2b / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D035583:Rare Diseases; D000070584:Tripartite Motif Proteins
D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C064419:TRIM27 protein, human; D000070584:Tripartite Motif Proteins