HTR2B,CHD7.

Maximilian Breuer1, Maximilian Rummler2, Jaskaran Singh1

  • 1Institut National de la Recherche Scientifique (INRS) - Centre Armand Frappier Santé Biotechnologie, Laval, QC H7V 1B7, Canada.

概括

染色体直酶DNA结合蛋白7 (CHD7) 突变导致CHARGE综合征,影响面和骨发育. 这项研究揭示了CHD7对骨和软骨形成至关重要,为CS相关缺陷提供了洞察力.

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