Title: <i>NIPBL </i>and <i>SMC1L1 </i>(now <i>SCM1A</i>) and the Cornelia de Lange Syndrome
Abstract: Abstract Cornelia de Lange syndrome (CdLS) or Brachmann-de Lange syndrome (BDLS) (OMIM 122470, 300590 and 610759) is a dominant disorder of multiple congenital anomalies typically including characteristic facial features, hirsutism, abnormalities of the upper extremities, gastroesophageal dysfunction, growth retardation, and neurodevelopmental delay. Mutations in genes encoding components and regulators of the cohesin complex (to date NIPBL and SMC1L1) are causative.
Publication Year: 2008
Publication Date: 2008-04-09
Language: en
Type: book-chapter
Indexed In: ['crossref']
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