A founder DBR1 variant causes a lethal form of congenital ichthyosis.

Shamseldin, Hanan E; Sadagopan, Mukunth; Martini, Javier; Al-Ali, Ruslan; Radefeldt, Mandy; Ataei, Mojgan; Lemke, Sabrina; Rahbeeni, Zuhair; Al Mutairi, Fuad; Ababneh, Faroug; AlRukban, Hadeel A; Abdulwahab, Firdous; Alhajj, Saleh Mohammed; Bauer, Peter; Bertoli-Avella, Aida; Alkuraya, Fowzan S

Shamseldin, Hanan E; Sadagopan, Mukunth; Martini, Javier; Al-Ali, Ruslan; Radefeldt, Mandy; Ataei, Mojgan; Lemke, Sabrina; Rahbeeni, Zuhair; Al Mutairi, Fuad; Ababneh, Faroug; AlRukban, Hadeel A; Abdulwahab, Firdous; Alhajj, Saleh Mohammed; Bauer, Peter; Bertoli-Avella, Aida; Alkuraya, Fowzan S.

Affiliation

Shamseldin HE; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Sadagopan M; CENTOGENE GmbH, Rostock, Germany.
Martini J; CENTOGENE GmbH, Rostock, Germany.
Al-Ali R; CENTOGENE GmbH, Rostock, Germany.
Radefeldt M; CENTOGENE GmbH, Rostock, Germany.
Ataei M; CENTOGENE GmbH, Rostock, Germany.
Lemke S; CENTOGENE GmbH, Rostock, Germany.
Rahbeeni Z; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Al Mutairi F; Genetic and Precision Medicine Department, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Ababneh F; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia.
AlRukban HA; Genetic and Precision Medicine Department, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Abdulwahab F; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Alhajj SM; Department of Pediatrics, King Abdullah Bin Abdulaziz University Hospital, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia.
Bauer P; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Bertoli-Avella A; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Alkuraya FS; CENTOGENE GmbH, Rostock, Germany.

Hum Genet ; 142(10): 1491-1498, 2023 Oct.

Article de En | MEDLINE | ID: mdl-37656279

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Encéphalite / Ichtyose Type d'étude: Etiology_studies Limites: Child / Humans Langue: En Journal: Hum Genet Année: 2023 Type de document: Article Pays d'affiliation: Arabie saoudite

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