Výsledky vyhledávání - "Elena V Cátedra-Vallés"

Identification of the third FGF9 variant in a girl with multiple synostosis–comparison of the genotype:phenotype of FGF9 variants in humans and mice

Autor: Lucia Sentchordi-Montané, Francisca Díaz-González, Karen E. Heath, Elena V Cátedra-Vallés

Publikováno v: Clinical Genetics. 99:309-312

Multiple Synostosis syndrome (SYNS) is a heterogeneous group of genetic disorders mainly characterized by multiple joint synostosis due to variants in either NOG, GDF5, FGF9 or GDF6. To date, only two FGF9 variants have been associated with SYNS, cha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8dd2fceaf78b356af135d6b727d35e87
https://doi.org/10.1111/cge.13876

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Identification of the third FGF9 variant in a girl with multiple synostosis-comparison of the genotype:phenotype of FGF9 variants in humans and mice

Autor: Lucia, Sentchordi-Montané, Francisca, Diaz-Gonzalez, Elena V, Cátedra-Vallés, Karen E, Heath

Publikováno v: Clinical geneticsREFERENCES. 99(2)

Multiple synostosis syndrome (SYNS) is a heterogeneous group of genetic disorders mainly characterized by multiple joint synostosis due to variants in either NOG, GDF5, FGF9 or GDF6. To date, only two FGF9 variants have been associated with SYNS, cha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0eb0c85d7503437e9ba0f2142149e575
https://pubmed.ncbi.nlm.nih.gov/33140402

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Akademický článek

Identification of the third FGF9 variant in a girl with multiple synostosis–comparison of the genotype:phenotype of FGF9 variants in humans and mice.

Autor: Sentchordi‐Montané, Lucia, Diaz‐Gonzalez, Francisca, Cátedra‐Vallés, Elena V., Heath, Karen E.

Publikováno v: Clinical Genetics; Feb2021, Vol. 99 Issue 2, p309-312, 4p

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