First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2.
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DOI: 10.1097/mcd.0000000000000192
Abstract: Department of Medical Genetics, CHU Bordeaux, Caribbean Reference Center for rare neuromuscular and neurologic diseases (CeRCa), CHU Martinique, route de Chateauboeuf, BP 632 97200 Fort-de-France Cédex, Multidisciplinary Center for Prenatal Diagnosis (CPDP) Mother and Children's… read more here.
Keywords: genetics; case osteopathia; female prenatal; france ... See more keywords