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of 4
pro vyhledávání: '"Jeffrey Manzano"'
Autor:
Surasak Puvabanditsin, Michelle Gorbonosov, Kristin Blackledge, Jeffrey Manzano, Matthew Federici, Rajeev Mehta
Publikováno v:
Clinical Case Reports, Vol 10, Iss 7, Pp n/a-n/a (2022)
Abstract We report a preterm male neonate presenting with a short trunk, short neck, low hairline, deformed ears, preauricular skin tag, penoscrotal transposition (PT), palmar crease, short and broad fingers and toes (brachydactyly), hypoplastic and
Externí odkaz:
https://doaj.org/article/0e7bc77b5dd34698941bdda0e2ec337d
Autor:
Surasak Puvabanditsin, Miry Shim, Jeffrey Suell, Jeffrey Manzano, Kristin Blackledge, Avram Bursky-Tammam, Rajeev Mehta
Publikováno v:
Case Reports in Urology, Vol 2022 (2022)
We report a term male neonate presenting with a “prune belly,” bilateral hydronephrosis, hydroureter, posterior urethral obstruction, and bilateral undescended testes. Analysis with the whole genome SNP microarray revealed an interstitial deletio
Externí odkaz:
https://doaj.org/article/7622fb52d5fd4b8e9589b551e58ecfbd
Autor:
Surasak Puvabanditsin, Michelle Gorbonosov, Kristin Blackledge, Jeffrey Manzano, Matthew Federici, Rajeev Mehta
Publikováno v:
Clinical Case Reports. 10
Autor:
Surasak Puvabanditsin, Michelle Gorbonosov, Kristin Blackledge, Jeffrey Manzano, Matthew Federici, Rajeev Mehta
We report a preterm male neonate presenting with a skeletal dysplasia associated with multiple congenital anomalies. Radiologic findings and genetic studies are consistent with spondylocostal dysostosis (SCD) and autosomal dominant brachydactyly. Thi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cd121c13062d1b10281242028409e050
https://doi.org/10.22541/au.163845862.23600241/v1
https://doi.org/10.22541/au.163845862.23600241/v1