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11 results
  1. ... only on official, secure websites. Normal Function The ECM1 gene provides instructions for making a protein that ... space between cells and provides structural support. The ECM1 protein can attach (bind) to numerous structural proteins ...
  2. ... characteristic clinical findings and either identification of biallelic ECM1 pathogenic variants on molecular genetic testing or characteristic ... pregnancies at increased risk are possible when the ECM1 pathogenic variants in the family are known. Diagnosis ...
  3. ... Lipoid proteinosis is caused by mutations in the ECM1 gene. This gene provides instructions for making a ... space between cells and provides structural support. The ECM1 protein can attach (bind) to numerous structural proteins ...
  4. ... list><related-gene-list ><related-gene ><gene-symbol >ECM1</gene-symbol><ghr-page >https://medlineplus.gov/genetics/gene/ecm1</ghr-page></related-gene></related-gene-list><synonym- ...
  5. ... gov/genetics/gene/ebp</url></topic><topic ><title >ECM1: extracellular matrix protein 1</title><url >https://medlineplus.gov/genetics/gene/ecm1</url></topic><topic ><title >EDA: ectodysplasin A</title>< ...
  6. ... feeding, fever, & soft tissue swelling Characteristic radiographic hyperostoses ECM1 Lipoid proteinosis AR Presents w/hoarseness, followed by ...
  7. ... synthetase 2, mitochondrial EBP : EBP cholestenol delta-isomerase ECM1 : extracellular matrix protein 1 EDA : ectodysplasin A EDAR : ...
  8. ... Continuation of: Bull. Soc. anat. de Par.] BRevb EcM1 Temperance Association. [See Med. Temper. Raleigh, N. C. ...