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Results: 1-3 |
Results: 3
A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome)
Authors: Orrico, A Galli, L Falciani, M Bracci, M Cavaliere, ML Rinaldi, MM Musacchio, A Sorrentino, V
Citation: A. Orrico et al., A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome), FEBS LETTER, 478(3), 2000, pp. 216-220
Short arm rearrangements of sex chromosomes with haploinsufficiency of theSHOX gene are associated with Leri-Weill dyschondrosteosis
Authors: Palka, G Stuppia, L Franchi, PG Chiarelli, F Fischetto, R Borrelli, P Giannotti, A Fioretti, G Rinaldi, MM Mingarelli, R Rappold, GA Calabrese, G
Citation: G. Palka et al., Short arm rearrangements of sex chromosomes with haploinsufficiency of theSHOX gene are associated with Leri-Weill dyschondrosteosis, CLIN GENET, 57(6), 2000, pp. 449-453
Pituitary deficiency and lack of gonads in an XY pseudohermaphrodite with beta 39/Lepore haemoglobinopathy
Authors: Saviano, A Filosa, A Pasquali, D Lamba, M Siciliani, MC Rinaldi, MM Bellastella, A Sinisi, AA
Citation: A. Saviano et al., Pituitary deficiency and lack of gonads in an XY pseudohermaphrodite with beta 39/Lepore haemoglobinopathy, J PED END M, 11, 1998, pp. 997-999
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