CLEIDOCRANIAL DYSPLASIA
\klˌe͡ɪdəkɹˈe͡ɪnɪəl dɪsplˈe͡ɪzi͡ə], \klˌeɪdəkɹˈeɪnɪəl dɪsplˈeɪziə], \k_l_ˌeɪ_d_ə_k_ɹ_ˈeɪ_n_ɪ__ə_l d_ɪ_s_p_l_ˈeɪ_z_iə]\
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A rare autosomal dominant condition in which there is defective ossification of the cranial bones with large fontanels and delayed closing of the sutures, complete or partial absence of the clavicles, wide pubic symphysis, short middle phalanges of the fifth fingers, and dental and vertebral anomalies. (From Dorland, 27th ed)
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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.-.