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
Birth Defects Res 2020 Jan 14
Association between maternal occupational exposure to polycyclic aromatic hydrocarbons and rare birth defects of the face and central nervous system.
Santiago-Colón A, Rocheleau CM, Chen IC, Sanderson W, Waters MA, Lawson CC, Langlois PH, Cragan JD, Reefhuis J
Previous studies suggested associations between maternal smoking, a source of exposure to polycyclic aromatic hydrocarbons (PAHs) and other chemicals, ...
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Source: PubMed
Pan Afr Med J
Choanal stenosis post radiotherapy for nasopharyngeal carcinoma: about an endoscopic management.
Lakhdar Y, Rochd S, Elbouderkaoui M, Rochdi Y, Nouri H, Raji A
Choanal atresia is a rare complication of radiation for nasopharyngeal carcinoma, which has to be early detected. Its treatment is based on endoscopic ...
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Source: PubMed
Pediatr Rep
Apert syndrome: Diagnostic and management problems in a resource-limited country.
Barro M, Ouedraogo YS, Nacro FS, Sanogo B, Kombasséré SO, Ouermi AS, Tamboura H, Cessouma RK, Nacro B
Apert syndrome or acrocephalosyndactyly is a rare genetic disease characterized by craniofacial dysmorphism and syndactyly of the hands and feet. We r ...
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Source: PubMed
Rev Chil Pediatr
Phenotypic spectrum of neonatal CHARGE syndrome.
Sánchez N, Hernández M, Cruz JP, Mellado C
CHARGE syndrome is a genetic disorder of wide phenotypic variability, of autosomal dominant in heritance, caused by pathogenic variants in the CHD7 ge ...
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Source: PubMed
