Diagnosis of Mosaic Tuberous Sclerosis Complex Using Next-Generation Sequencing of Subtle or Unusual Cutaneous Findings

• Hauptverfasser: Alison M. Treichel (Verfasst von), Barbara Boeszoermenyi (Verfasst von), Chyi-Chia Richard Lee (Verfasst von), Joel Moss (Verfasst von), David J. Kwiatkowski (Verfasst von), Thomas N. Darling (Verfasst von)
• Format: Buch
• Veröffentlicht: Elsevier, 2023-03-01T00:00:00Z.
• Schlagworte: article
• Online-Zugang: Connect to this object online.

Skin findings can be critical to determining whether a patient with lymphangioleiomyomatosis (LAM), a progressive pulmonary disease that predominantly affects adult women, has sporadic LAM or LAM in association with tuberous sclerosis complex (TSC). Three individuals with LAM underwent evaluation fo...