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Correction: Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.
Elsayed LEO, AlHarbi NA, Alqarni AM, Eltayeb HHE, Mostafa NMM, Abdulrahim MM, Zaid HIB, Alanzi LM, Ababtain SA, Aldulaijan K, Aloyouni SY, Othman MAK, Alkheilewi MA, Binduraihem AM, Alrukban HA, Ahmed HY, AlRadini FA, Alahdal HM, Mushiba AM, Alzaher OA. Elsayed LEO, et al. Among authors: alrukban ha. Hum Genomics. 2024 Oct 15;18(1):115. doi: 10.1186/s40246-024-00681-x. Hum Genomics. 2024. PMID: 39407347 Free PMC article. No abstract available.
Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.
Elsayed LEO, AlHarbi NA, Alqarni AM, Eltayeb HHE, Mostafa NMM, Abdulrahim MM, Zaid HIB, Alanzi LM, Ababtain SA, Aldulaijan K, Aloyouni SY, Othman MAK, Alkheilewi MA, Binduraihem AM, Alrukban HA, Ahmed HY, AlRadini FA, Alahdal HM, Mushiba AM, Alzaher OA. Elsayed LEO, et al. Among authors: alrukban ha. Hum Genomics. 2024 Sep 4;18(1):95. doi: 10.1186/s40246-024-00662-0. Hum Genomics. 2024. PMID: 39232803 Free PMC article.
A founder DBR1 variant causes a lethal form of congenital ichthyosis.
Shamseldin HE, Sadagopan M, Martini J, Al-Ali R, Radefeldt M, Ataei M, Lemke S, Rahbeeni Z, Al Mutairi F, Ababneh F, AlRukban HA, Abdulwahab F, Alhajj SM, Bauer P, Bertoli-Avella A, Alkuraya FS. Shamseldin HE, et al. Among authors: alrukban ha. Hum Genet. 2023 Oct;142(10):1491-1498. doi: 10.1007/s00439-023-02597-3. Epub 2023 Sep 1. Hum Genet. 2023. PMID: 37656279