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- W4361268193 endingPage "647" @default.
- W4361268193 startingPage "647" @default.
- W4361268193 abstract "Holoprosencephaly (HPE) is the most common malformation of the prosencephalon in humans. It is characterized by a continuum of structural brain anomalies resulting from the failure of midline cleavage of the prosencephalon. The three classic subtypes of HPE are alobar, semilobar and lobar, although a few additional categories have been added to this original classification. The severity of the clinical phenotype is broad and usually mirrors the radiologic and associated facial features. The etiology of HPE includes both environmental and genetic factors. Disruption of sonic hedgehog (SHH) signaling is the main pathophysiologic mechanism underlying HPE. Aneuploidies, chromosomal copy number variants and monogenic disorders are identified in a large proportion of HPE patients. Despite the high postnatal mortality and the invariable presence of developmental delay, recent advances in diagnostic methods and improvements in patient management over the years have helped to increase survival rates. In this review, we provide an overview of the current knowledge related to HPE, and discuss the classification, clinical features, genetic and environmental etiologies and management." @default.
- W4361268193 created "2023-03-31" @default.
- W4361268193 creator A5030356434 @default.
- W4361268193 creator A5037359569 @default.
- W4361268193 creator A5037785169 @default.
- W4361268193 creator A5076405737 @default.
- W4361268193 date "2023-03-30" @default.
- W4361268193 modified "2023-10-01" @default.
- W4361268193 title "Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and Management" @default.
- W4361268193 cites W1532683920 @default.
- W4361268193 cites W1759401885 @default.
- W4361268193 cites W1966435498 @default.
- W4361268193 cites W1969336236 @default.
- W4361268193 cites W1972700427 @default.
- W4361268193 cites W1972743299 @default.
- W4361268193 cites W1977202025 @default.
- W4361268193 cites W1983701421 @default.
- W4361268193 cites W1984283610 @default.
- W4361268193 cites W1991078032 @default.
- W4361268193 cites W1993778270 @default.
- W4361268193 cites W1994452395 @default.
- W4361268193 cites W1996258914 @default.
- W4361268193 cites W2010614235 @default.
- W4361268193 cites W2011231507 @default.
- W4361268193 cites W2014633923 @default.
- W4361268193 cites W2015720648 @default.
- W4361268193 cites W2020828545 @default.
- W4361268193 cites W2022753721 @default.
- W4361268193 cites W2032110964 @default.
- W4361268193 cites W2035548394 @default.
- W4361268193 cites W2040343299 @default.
- W4361268193 cites W2048882448 @default.
- W4361268193 cites W2049890051 @default.
- W4361268193 cites W2051391931 @default.
- W4361268193 cites W2059432588 @default.
- W4361268193 cites W2060331223 @default.
- W4361268193 cites W2064362618 @default.
- W4361268193 cites W2066187058 @default.
- W4361268193 cites W2066631134 @default.
- W4361268193 cites W2070920998 @default.
- W4361268193 cites W2071127048 @default.
- W4361268193 cites W2072034222 @default.
- W4361268193 cites W207245508 @default.
- W4361268193 cites W2076906185 @default.
- W4361268193 cites W2084150355 @default.
- W4361268193 cites W2085341432 @default.
- W4361268193 cites W2087285048 @default.
- W4361268193 cites W2092692340 @default.
- W4361268193 cites W2101230544 @default.
- W4361268193 cites W2102715027 @default.
- W4361268193 cites W2106607706 @default.
- W4361268193 cites W2117975441 @default.
- W4361268193 cites W2118852498 @default.
- W4361268193 cites W2123158371 @default.
- W4361268193 cites W2134825369 @default.
- W4361268193 cites W2135776081 @default.
- W4361268193 cites W2140200237 @default.
- W4361268193 cites W2142929373 @default.
- W4361268193 cites W2162141948 @default.
- W4361268193 cites W2163114225 @default.
- W4361268193 cites W2164642954 @default.
- W4361268193 cites W2167419379 @default.
- W4361268193 cites W2174222810 @default.
- W4361268193 cites W2227412517 @default.
- W4361268193 cites W2266203633 @default.
- W4361268193 cites W2269171550 @default.
- W4361268193 cites W2272013100 @default.
- W4361268193 cites W2296709372 @default.
- W4361268193 cites W2471773038 @default.
- W4361268193 cites W2614871251 @default.
- W4361268193 cites W2716939273 @default.
- W4361268193 cites W2744740297 @default.
- W4361268193 cites W2772189056 @default.
- W4361268193 cites W2787415356 @default.
- W4361268193 cites W2801700349 @default.
- W4361268193 cites W2802260015 @default.
- W4361268193 cites W2803250659 @default.
- W4361268193 cites W2803673148 @default.
- W4361268193 cites W2804119723 @default.
- W4361268193 cites W2804904774 @default.
- W4361268193 cites W2883008004 @default.
- W4361268193 cites W2884045561 @default.
- W4361268193 cites W2884222304 @default.
- W4361268193 cites W2916674641 @default.
- W4361268193 cites W2939656667 @default.
- W4361268193 cites W2949657117 @default.
- W4361268193 cites W2966892776 @default.
- W4361268193 cites W2969945357 @default.
- W4361268193 cites W2999284235 @default.
- W4361268193 cites W3096816915 @default.
- W4361268193 cites W3115128751 @default.
- W4361268193 cites W4220956604 @default.
- W4361268193 cites W4234366130 @default.
- W4361268193 cites W4281722162 @default.
- W4361268193 doi "https://doi.org/10.3390/children10040647" @default.
- W4361268193 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37189898" @default.
- W4361268193 hasPublicationYear "2023" @default.
- W4361268193 type Work @default.