Division of Pediatric Allergy and Immunology, Sakarya University Medical Faculty, Sakarya, Türkiye Department of Genetics, Ümraniye Training and Research Hospital, University of Health Sciences, ...

aBiologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy, bIstituto di Genetica Medica, Università Cattolica, Roma, Italy, cIRCCS, Policlinico San ...

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The Jamaican mother of a teenager in desperate need of a new kidney has renewed her plea for a living donor to save her ...

Table 1 shows the presence of POFP at each sacral level evaluated. We noted the absence of POFP at S1, i.e, the presence of sacral dysmorphism, in 64 (35.5%) of the 180 patients evaluated. Table 5 ...

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1 Laboratory of Histology-Reproductive Biology, Cytogenetics and Medical Genetics, Human Biology Unit, Faculty of Health Sciences, University of Abomey-Calavi, Cotonou, Benin. 2 Faculty of Health ...

CONCLUSIONS ARC syndrome exhibits notable clinical variability and may not be as rare as previously thought. The association of Fanconi syndrome, ichthyosis, dysmorphism, jaundice, and diarrhoea has ...

retardation and dysmorphism’, Kenny-Caffey syndrome, mitochondrial diseases and others.8 The differential diagnosis for FTT is much broader, and even maternal gestational cannabinoid use may restrict ...

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Hypertrichosis can be very troublesome for the affected patients and their families. This condition is characterized by an increase in hair growth beyond normal variation in areas that are not ...