LOBAR HOLOPROSENCEPHALY
\lˈə͡ʊbɑː hˈɒləpɹˌə͡ʊsənsˌɛfəli], \lˈəʊbɑː hˈɒləpɹˌəʊsənsˌɛfəli], \l_ˈəʊ_b_ɑː h_ˈɒ_l_ə_p_ɹ_ˌəʊ_s_ə_n_s_ˌɛ_f_ə_l_i]\
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Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe MENTAL RETARDATION; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of mental retardation. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild mental retardation to normal. Holoprosencephlay is associated with CHROMOSOME ABNORMALITIES.
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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.-.