A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene

Kabuki syndrome is not caused by a micro

Kabuki syndrome is not caused by a microdeletion in the DiGeorgeVelocardiofacial chromosomal region within 22q11.2

✍ Li, Mengrong; Zackai, Elaine H.; Niikawa, Norio; Kaplan, Paige; Driscoll, Debora 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 337 KB 👁 1 views

Kabuki syndrome (KS) or Niikawa-Kuroki syndrome is a sporadic disorder characterized by postnatal growth retardation, developmental delay, mild to moderate retardation, and a characteristic facial appearance. Cardiovascular defects, clefts of the lip, palate, or both, and musculoskeletal abnormaliti