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Search Results - Puig-Hervás, Maria Trinidad
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Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum
by
Puig-Hervás, Maria Trinidad
,
Temtamy, Samia
,
Aglan, Mona
,
Valencia, Maria
,
Martínez-Glez, Víctor
,
Ballesta-Martínez, María Juliana
,
López-González, Vanesa
,
Ashour, Adel M.
,
Amr, Khalda
,
Pulido, Veronica
,
Guillén-Navarro, Encarna
,
Lapunzina, Pablo
,
Caparrós-Martín, José A.
,
Ruiz-Perez, Victor L.
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Human mutation
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Human Mutation
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Adolescent
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Arthrogryposis - Genetics
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Bruck Syndrome
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Child
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Child, Preschool
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Connective Tissue Diseases - Genetics
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Consanguinity
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Female
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Fkbp10
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Genes, Recessive
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Genetics & Heredity
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Homozygote
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Humans
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Life Sciences & Biomedicine
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Lysyl Hydroxylase 2
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Male
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Molecular Sequence Data
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Mutation
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Osteogenesis Imperfecta
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Osteogenesis Imperfecta - Genetics
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