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Chd2 knockdown zebrafish have multiple developmental abnormalities, abnormal movements and epileptiform discharges (Suls et al., 2013).
Infants with a severe form of ZSD (Zellweger syndrome) have multiple developmental abnormalities and generally die within the first year of life.
Mutations in Kcnj1 are associated with Bartter syndrome (OMIM: 241200), a life-threatening disorder including multiple developmental abnormalities.
Disruptions of connexin43 by mutations in GJA1 result in oculodentodigital dysplasia causing multiple developmental abnormalities [ 4].
Furthermore, haplo-insufficiency of SOX9 in humans causes campomelic dysplasia involving multiple developmental abnormalities including those in cartilage (44).
Cumulatively, our result together with current evidence suggests that besides multiple developmental abnormalities, aneuploidy associate with alterations in the risk for specific cancers.
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In the Smad6 knockout mouse originally described by Galvin et al. (2000), multiple cardiovascular developmental abnormalities, including hyperplastic thickening of the cardiac valves and aortic ossification, are present.
Recurrent acquired and somatic rearrangements of chromosome 22 are associated with multiple diseases and developmental abnormalities.
This study reveals essential roles of Nf1 in GC/UBC migration by generating correct numbers of glia and controlling GC/UBC fate-specification/differentiation, identifying a therapeutic prevention strategy for multiple NF1-associcated developmental abnormalities.
Keratin K5 promoter-induced overexpression of Smad7 specifically in mouse epidermis shows multiple epithelial and developmental abnormalities at birth, exhibited as corneal defects in the eyes, aberrant hair follicle morphogenesis in the skin, epidermal hyperproliferation in the digestive tract and severe thymic atrophy [ 16, 56].
Congenital circumferential skin creases may be an isolated anomaly or may be associated with multiple congenital anomalies and developmental abnormalities [ 3].
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