المؤلفون: Sadowski, Samantha, Chassaing, Nicolas, Gaj, Zuzanna, Czichos, Ewa, Wilczynski, Jan, Nowakowska, Dorota

المساهمون: Medical University of Łódź (MUL), Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Polish Mother’s Memorial Hospital Research Institute Lodz (ICZMP), Duchess Anna Mazowiecka Public Teaching Hospital Warsaw

المصدر: ISSN: 2472-1727.

مصطلحات موضوعية: Matthew-Wood syndrome, STRA6 gene mutations, anophthalmia, MESH: Abnormalities, Multiple / diagnosis, Multiple / genetics, MESH: Male, MESH: Membrane Proteins / genetics, Multiple / pathology, MESH: Microphthalmos / diagnosis, MESH: Microphthalmos / genetics, MESH: Microphthalmos / pathology, MESH: Mutation, Missense, MESH: Pregnancy, MESH: Respiratory Insufficiency / diagnosis, MESH: Respiratory Insufficiency / genetics, MESH: Humans, MESH: Respiratory Insufficiency / pathology, MESH: Anophthalmos / diagnosis, MESH: Anophthalmos / genetics, MESH: Anophthalmos / pathology, MESH: Fatal Outcome, MESH: Female, MESH: Frameshift Mutation, MESH: Gene Expression, MESH: Infant, MESH: Inheritance Patterns, MESH: Lung / abnormalities, MESH: Lung / pathology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28398665; hal-03282659; https://ut3-toulouseinp.hal.science/hal-03282659Test; PUBMED: 28398665

الإتاحة: https://doi.org/10.1002/bdra.23465Test
https://ut3-toulouseinp.hal.science/hal-03282659Test

المؤلفون: Sadowski, Samantha, Chassaing, Nicolas, Gaj, Zuzanna, Czichos, Ewa, Wilczynski, Jan, Nowakowska, Dorota

المساهمون: Medical University of Łódź (MUL), Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Polish Mother’s Memorial Hospital Research Institute [Lodz] (ICZMP), Duchess Anna Mazowiecka Public Teaching Hospital [Warsaw]

المصدر: Birth Defects Research
Birth Defects Research, Wiley, 2017, 109 (4), pp.251-253. ⟨10.1002/bdra.23465⟩

مصطلحات موضوعية: MESH: Lung Diseases / diagnosis, Lung Diseases, Male, MESH: Respiratory Insufficiency / genetics, MESH: Fatal Outcome, MESH: Gene Expression, MESH: Lung / pathology, Inheritance Patterns, Mutation, Missense, Gene Expression, MESH: Membrane Proteins / genetics, MESH: Anophthalmos / diagnosis, STRA6 gene mutations, MESH: Microphthalmos / diagnosis, MESH: Pregnancy, Fatal Outcome, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Pregnancy, anophthalmia, Humans, Microphthalmos, Abnormalities, Multiple, MESH: Lung Diseases / pathology, Frameshift Mutation, Lung, MESH: Anophthalmos / pathology, MESH: Microphthalmos / pathology, MESH: Respiratory Insufficiency / diagnosis, MESH: Humans, MESH: Lung Diseases / genetics, MESH: Frameshift Mutation, MESH: Lung / abnormalities, Anophthalmos, Infant, Membrane Proteins, MESH: Anophthalmos / genetics, MESH: Abnormalities, Multiple / genetics, MESH: Microphthalmos / genetics, MESH: Infant, MESH: Male, MESH: Mutation, Missense, MESH: Abnormalities, Multiple / diagnosis, MESH: Respiratory Insufficiency / pathology, Matthew-Wood syndrome, MESH: Abnormalities, Multiple / pathology, Female, MESH: Inheritance Patterns, Respiratory Insufficiency, MESH: Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::800f77e7ed4d0e01ed307d6c52a1d818Test
https://pubmed.ncbi.nlm.nih.gov/28398665Test