Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Alpha-thalassemia

An inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.

Sarcoma

A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant.

Total: 1

(per page)

PMID (PMCID)
30032823	FEMALE
	Next-generation sequencing analysis identifies genomic alterations in pathological morphologies: A case of pulmonary carcinosarcoma harboring EGFR mutations.
	Koba H, Kimura H, Nishikawa S, Sone T, Abo M, Hara J, Hosomichi K, Tajima A, Kasahara K. Lung Cancer. 2018;122:146-150.
	Additionally, we focused on an alpha-thalassemia/mental retardation syndrome X-linked (ATRX) mutation which was only present in the sarcoma component.