Clinical, molecular, and pathological findings in a Neu-Laxova syndrome stillborn: A Brazilian case report.

Cavole, Thiago R; Perrone, Eduardo; Lucena de Castro, Felipe S C; Alvarez Perez, Ana B; Waitzberg, Angela Flávia L; Cernach, Mirlene C S P

Cavole, Thiago R; Perrone, Eduardo; Lucena de Castro, Felipe S C; Alvarez Perez, Ana B; Waitzberg, Angela Flávia L; Cernach, Mirlene C S P.

Affiliation

Cavole TR; Department of Medical Genetics, Universidade Federal de Sao Paulo, Sao Paulo, Brazil.
Perrone E; Department of Medical Genetics, Universidade Federal de Sao Paulo, Sao Paulo, Brazil.
Lucena de Castro FSC; Department of Pathology, Universidade Federal de Sao Paulo, Sao Paulo, Brazil.
Alvarez Perez AB; Department of Medical Genetics, Universidade Federal de Sao Paulo, Sao Paulo, Brazil.
Waitzberg AFL; Department of Pathology, Universidade Federal de Sao Paulo, Sao Paulo, Brazil.
Cernach MCSP; Department of Medical Genetics, Universidade Metropolitana de Santos, Sao Paulo, Brazil.

Am J Med Genet A ; 182(6): 1473-1476, 2020 06.

Article in En | MEDLINE | ID: mdl-32196970

Subject(s)

Abnormalities, Multiple/genetics; Brain Diseases/genetics; Congenital Abnormalities/genetics; Fetal Growth Retardation/genetics; Ichthyosis/genetics; Limb Deformities, Congenital/genetics; Microcephaly/genetics; Phosphoglycerate Dehydrogenase/genetics; Stillbirth/genetics; Abnormalities, Multiple/mortality; Abnormalities, Multiple/pathology; Brain Diseases/mortality; Brain Diseases/pathology; Brazil/epidemiology; Congenital Abnormalities/mortality; Congenital Abnormalities/pathology; Consanguinity; Female; Fetal Growth Retardation/mortality; Fetal Growth Retardation/pathology; Genes, Lethal/genetics; Genetic Predisposition to Disease; Humans; Ichthyosis/mortality; Ichthyosis/pathology; Limb Deformities, Congenital/mortality; Limb Deformities, Congenital/pathology; Microcephaly/mortality; Microcephaly/pathology; Mutation, Missense/genetics; Pregnancy; Stillbirth/epidemiology

Key words

PHGDH; PSAT1; PSP; Neu-Laxova; serine

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Congenital Abnormalities / Abnormalities, Multiple / Brain Diseases / Limb Deformities, Congenital / Phosphoglycerate Dehydrogenase / Stillbirth / Fetal Growth Retardation / Ichthyosis / Microcephaly Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Pregnancy Country/Region as subject: America do sul / Brasil Language: En Journal: Am J Med Genet A Year: 2020 Document type: Article

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