Germ Line Gain of Function with SOS1 Mutation in Hereditary Gingival Fibromatosis
نویسندگان
چکیده
منابع مشابه
Hereditary gingival fibromatosis with hemophilia B.
This work presents a case report of a generalized form of hereditary gin gival fibromatosis with hemophilia B as an accompanying disease. In the family of proband, consisting of 28 members, fibromatosis was present in 9 (4 males and 5 females). The pedigree analysis confirmed that gingival fibro matosis was transmited through three generations as an autosomal dominant trait. Neither proband, ...
متن کاملHereditary gingival fibromatosis with distinctive facies.
Hereditary gingival enlargement also known as gingivitis or familial elephantiasis is a rare type of gingival enlargement. It appears as an isolated autosomal dominant disorder or maybe associated with other conditions. Oral manifestations may vary from minimal involvement of only tuberosity area and the buccal gingiva around the lower molars to a generalized enlargement inhibiting eruption of ...
متن کاملImmunoexpression of α2-integrin and Hsp47 in hereditary gingival fibromatosis and gingival fibromatosis-associated dental abnormalities
OBJECTIVE The purpose of the present study was to investigate the expression of the α2-integrin subunit and heat shock protein 47 (Hsp47) in two families with isolated gingival fibromatosis (GF) form and one family with GF associated with dental abnormalities and normal gingival (NG). STUDY DESIGN Immunohistochemistry was performed with antibodies against α2-integrin and Hsp47 in specimens fr...
متن کاملHereditary gingival fibromatosis: a case report.
BACKGROUND/AIMS Hereditary gingival fibromatosis is characterized by various degrees of attached gingival overgrowth. It usually develops as an isolated disorder but can be one feature of a syndrome. A case of a 38-year-old female is reported who presented a generalized severe gingival overgrowth, involving the maxillary and mandibular arches and covering almost all teeth. The clinical differen...
متن کاملHereditary Gingival Fibromatosis Diagnosis and Treatment
Hereditary Gingival Fibromatosis (HGF) also referred to as idiopathic gingival hyperplasia is a rare type of slow growing gingival enlargement with great clinical and genetic heterogenity inherited usually as Mendelian autosomal dominant fashion. Occurring as an isolated trait (HGF) and/or as a component of a syndrome, the affected gingiva is characterized by firm, asymptomatic, nonhemorrhagic ...
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ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 2007
ISSN: 0021-9258
DOI: 10.1074/jbc.m701609200