Am J Med Genet C Semin Med Genet 2020 Jan 30
Left-right patterning in congenital heart disease beyond heterotaxy.
Gabriel GC, Lo CW
Congenital heart defect is one of the most common structural birth defects in the human population. It is highly associated with heterotaxy, a birth d ...
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Source: PubMed
Echocardiography 2020 Jan 22
Multimodality imaging of an asymptomatic giant right atrial appendage aneurysm.
Uzun F, Güner A, Kahraman S, Kalkan AK, Güner EG, Ertürk M
Right atrial appendage (RAA) aneurysm is a rare congenital cardiac abnormality thought to be caused by dysplasia of the muscular wall of the RA and RA ...
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Source: PubMed
Genet. Med. 2020 Jan 17
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Cuvertino S, Hartill V, Colyer A, Garner T, Nair N, Al-Gazali L, Canham N, Faundes V, Flinter F, Hertecant J, Holder-Espinasse M, Jackson B, Lynch SA, Nadat F, Narasimhan VM, Peckham M, Sellers R, Seri M, Montanari F, Southgate L, Squeo GM, Trembath R, van Heel D, Venuto S, Weisberg D, Stals K, Ellard S, Barton A, Kimber SJ, Sheridan E, Merla G, Stevens A, Johnson CA, Banka S
To investigate if specific exon 38 or 39 KMT2D missense variants (MVs) cause a condition distinct from Kabuki syndrome type 1 (KS1). ...
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Source: PubMed
Ceska Gynekol
Prenatally diagnosed patent urachus with umbilical cord cyst and early surgical intervention.
Blažík R, Matecha J, Pýchová M, Bayerová E, Chmel R, Cerný M, Fait T
Description of rare diagnosis of patent urachus. ...
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Source: PubMed
Pediatr. Pulmonol. 2020 Jan 16
Chest CT scoring for evaluation of lung sequelae in congenital diaphragmatic hernia survivors.
Beel E, Aukland SM, Boon M, Vermeulen F, Debeer A, Proesmans M
Data on long-term structural lung abnormalities in survivors of congenital diaphragmatic hernia (CDH) is scarce. The purpose of this study was to deve ...
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Source: PubMed
