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Publications by Bruna Lucheze Freire
Two Patients With Severe Short Stature Due to a FBN1 Mutation (p.Ala1728Val) With a Mild Form of Acromicric Dysplasia
Hormone Research in Paediatrics
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
Related publications
Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation
Frontiers in Endocrinology
Endocrinology
Metabolism
Diabetes
Severe Lateral Tibial Bowing With Short Stature
Mild Osteochondrodysplasia With Acanthosis Nigricans in a Short-Statured Taiwanese Family Due to the p.Lys650Gln Mutation in FGFR3
Pediatrics and Neonatology
Child Health
Pediatrics
Perinatology
Skin Fibroblasts of Patients With Geleophysic Dysplasia Due to FBN1 Mutations Have Lysosomal Inclusions and Losartan Improves Their Microfibril Deposition Defect
Molecular genetics & genomic medicine
Genetics
Molecular Biology
A Severe Recessive and a Mild Dominant Form of Charcot-Marie-Tooth Disease Associated With a Newly Identified Glu222Lys GDAP1 Gene Mutation.
Acta Biochimica Polonica
Biochemistry
Genetics
Molecular Biology
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Chromosome Abnormalities in Indonesian Patients With Short Stature
Molecular Cytogenetics
Biochemistry
Molecular Medicine
Genetics
Molecular Biology
Identification of a Major Recombination Hotspot in Patients With Short Stature and SHOX Deficiency
American Journal of Human Genetics
Genetics
Low Vitamine a Intake in Children With Short Stature
Pediatric Research
Child Health
Pediatrics
Perinatology
