Search Results - "Hakkakian, Leila"

Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla by Tessier, Aude, Roux, Nathalie, Boutaud, Lucile, Lunel, Elodie, Hakkakian, Leila, Parisot, Mélanie, Garfa-Traoré, Meriem, Ichkou, Amale, Elkhartoufi, Nadia, Bole, Christine, Nitschke, Patrick, Amiel, Jeanne, Martinovic, Jelena, Encha-Razavi, Férechté, Attié-Bitach, Tania, Thomas, Sophie

“…Congenital hydrocephalus is a common condition caused by the accumulation of cerebrospinal fluid in the ventricular system. Four major genes are currently…”
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Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene by Billon, Clarisse, Molin, Arnaud, Poirsier, Céline, Clemenson, Alix, Dauge, Coralie, Grelet, Maude, Sigaudy, Sabine, Patrier, Sophie, Goldenberg, Alice, Layet, Valérie, Tantau, Julia, Fleury, Clémence, Liard, Agnès, Diguet, Alain, Fritih, Radia, Verspyck, Eric, Rendu, John, Boutaud, Lucile, Tessier, Aude, Thomas, Sophie, Razavi, Ferechté, Achaiaa, Amale, Elkhartoufi, Nadia, Hakkakian, Leila, Magnin, Eglantine, Bôle‐Feysot, Christine, Masson, Cécile, Ville, Yves, Roth, Philippe, Prieur, Fabienne, Bessieres, Bettina, Bonniere, Maryse, Attie‐Bitach, Tania

“…Megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome (MMIHS) is a severe congenital visceral myopathy characterized by an abdominal distension due to a…”
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