Total: 1 |
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PMID (PMCID) | ||
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9783713 |
FEMALE | Infant |
Further evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial clefting. | ||
Davies AF, Imaizumi K, Mirza G, Stephens RS, Kuroki Y, Matsuno M, Ragoussis J. J Med Genet. 1998;35(10):857-61. |
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Here we present a female patient with cleft palate, severe growth retardation, developmental delay, frontal bossing, hypertelorism, antimongoloid slant, bilateral ptosis, flat nasal bridge, hypoplastic nasal alae, protruding upper lip, microretrognathia, bilateral, low set, and posteriorly rotated ears, bilateral microtia, narrow ear canals, short neck, and a karyotype of 46,XX,t(6;9)(p24;p23). |