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Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency.
A previously unrecognized mental retardation malformation syndrome was observed in five unrelated Japanese children. Consistent clinical features included moderate-to-severe mental retardation,Expand
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Heterozygous TGFBR2 mutations in Marfan syndrome
Marfan syndrome is an extracellular matrix disorder with cardinal manifestations in the eye, skeleton and cardiovascular systems associated with defects in the gene encoding fibrillin (FBN1) atExpand
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Monoallelic BUB1B mutations and defective mitotic‐spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome
Cancer‐prone syndrome of premature chromatid separation (PCS syndrome) with mosaic variegated aneuploidy (MVA) is a rare autosomal recessive disorder characterized by growth retardation,Expand
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Androgenetic origin of hydatidiform mole
CLASSIC hydatidiform mole is the product of an abnormal pregnancy with grossly swollen chorionic villi, but without an embryo, cord or amniotic membrane. Histologically, the villi are characterisedExpand
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Anatomic and chromosomal anomalies in 639 spontaneous abortuses
SummaryA total of 639 spontaneous abortuses collected in a maternity hospital were set up in culture. This sample included 565 unselected consecutive abortuses and 74 selected abortuses ascertainedExpand
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Fibroblast-specific common fragile sites induced by aphidicolin
SummaryThe distribution and frequency of aphidicolin-induced common fragile sites were studied in chromosomes of cultured skin fibroblasts and PHA-stimulated lymphocytes from five normal individuals;Expand
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Hydatidiform mole: two entities
In a continuous series of 811 spontaneous and 1,097 induced abortions, 75 specimens with gross swellings of the chorionic villi were found. On gross morphology, histopatholgy, and karyotype theseExpand
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Banding analysis of abnormal karyotypes in spontaneous abortion.
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