HUNERMANN CONRADI SYNDROME
\hjˈuːnəmˌan kənɹˈadɪ sˈɪndɹə͡ʊm], \hjˈuːnəmˌan kənɹˈadɪ sˈɪndɹəʊm], \h_j_ˈuː_n_ə_m_ˌa_n k_ə_n_ɹ_ˈa_d_ɪ s_ˈɪ_n_d_ɹ_əʊ_m]\
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A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
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Proto Oncogene Proteins c erbB 2
- cell surface protein-tyrosine kinase that is found to be overexpressed in significant number adenocarcinomas. It has extensive homology can heterodimerize EGF EPIDERMAL GROWTH FACTOR), 3 receptor (RECEPTOR, 3) and the 4 receptor. Activation of erbB-2 receptor occurs during heterodimer formation with a ligand-bound erbB family members. EC 2.7.11.-.
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