Zobrazeno 1 - 2
of 2
pro vyhledávání: '"S M, Bitts"'
Publikováno v:
Clinical genetics. 60(5)
Mosaicism for tandem duplications is rare. Most patients reported had abnormal phenotypes of varying severity, depending on the chromosomal imbalance involved and the level of mosaicism. Post-zygotic unequal sister-chromatid exchange has been propose
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::86059396db76e243e989c3bfde461c25
https://pubmed.ncbi.nlm.nih.gov/11903338
https://pubmed.ncbi.nlm.nih.gov/11903338
Publikováno v:
American journal of medical genetics. 93(3)
Coffin-Siris syndrome is characterized by intrauterine growth retardation, mental deficiency, coarse face, hypoplastic fifth fingers and nails, hirsutism, and initial difficulties with feeding. The etiology of this syndrome is unknown. We report on a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7970abf656fa6d77e4a2c48f25c09fe0
https://pubmed.ncbi.nlm.nih.gov/10925390
https://pubmed.ncbi.nlm.nih.gov/10925390