Dowsett, Leah; Porras, Antonio R.; Kruszka, Paul; Davis, Brandon; Hu, Tommy; Honey, Engela M.; Badoe, Eben; Thong, Meow-Keong; Leon, Eyby; Girisha, Katta M.; Shukla, Anju; Nayak, Shalini S.; Shotelersuk, Vorasuk; Megarbane, Andre; Phadke, Shubha; Sirisena, Nirmala D.; Dissanayake, Vajira H.W.; Ferreira, Carlos R.; Kisling, Monisha S.; Tanpaiboon, Pranoot; Uwineza, Annette; Mutesa, Leon; Tekendo-Ngongang, Cedrik; Wonkam, Ambroise; Fieggen, Karen; Batista, Leticia Cassimiro; Moretti-Ferreira, Danilo; Stevenson, Roger E.; Prijoles, Eloise J.; Everman, David; Clarkson, Kate; Worthington, Jessica; Kimonis, Virginia; Hisama, Fuki; Crowe, Carol; Wong, Paul; Johnson, Kisha; Clark, Robin D.; Bird, Lynne; Masser-Frye, Diane; McDonald, Marie; Willems, Patrick; Roeder, Elizabeth; Saitta, Sulgana; Anyane-Yeoba, Kwame; Demmer, Laurie; Hamajima, Naoki; Stark, Zornitza; Gillies, Greta; Hudgins, Louanne; Dave, Usha; Shalev, Stavit; Siu, Victoria; Ades, Ann; Dubbs, Holly; Raible, Sarah; Kaur, Maninder; Salzano, Emanuela; Jackson, Laird; Deardorff, Matthew; Kline, Antonie; Summar, Marshall; Muenke, Maximilian; Linguraru, Marius George; Krantz, Ian D.
(Wiley, 2019-02)
Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes—NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched ...
