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American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2013, Volume 161, Issue 12, pp. 3121 - 3125
We present a Hispanic male with the clinical and molecular diagnosis of Simpson–Golabi–Behmel syndrome (SGBS). The patient was born with multiple anomalies not... 
craniosynostosis | adrenal insufficiency | coronal synostosis | glypican 3 | hypospadias | prostatic utricle | Simpson–Golabi–Behmel syndrome | ambiguous genitalia | large for gestational age | diaphragmatic hernia | Coronal synostosis | Diaphragmatic hernia | Simpson-Golabi-Behmel syndrome | Large for gestational age | Adrenal insufficiency | Glypican 3 | Craniosynostosis | Hypospadias | Prostatic utricle | Ambiguous genitalia | OVERGROWTH SYNDROME | CONGENITAL DIAPHRAGMATIC-HERNIA | GLYPICAN-3 | REFLUX | GENE | MOUSE MODEL | GENETICS & HEREDITY | OVERLAP | Scrotum - abnormalities | Frameshift Mutation | Scrotum - physiopathology | Urethral Diseases - genetics | Craniosynostoses - complications | Humans | Gigantism - physiopathology | Genetic Diseases, X-Linked - complications | Intellectual Disability - complications | Male | Craniosynostoses - physiopathology | Arrhythmias, Cardiac - physiopathology | Gigantism - complications | Intellectual Disability - genetics | Heart Defects, Congenital - genetics | Disorders of Sex Development - complications | Adult | Female | Genetic Diseases, X-Linked - genetics | Disorders of Sex Development - physiopathology | Prostate - physiopathology | Abnormalities, Multiple - genetics | Arrhythmias, Cardiac - genetics | Genetic Diseases, X-Linked - physiopathology | Infant, Newborn | Craniosynostoses - genetics | Penis - physiopathology | Urethral Diseases - physiopathology | Disorders of Sex Development - genetics | Glypicans - genetics | Abnormalities, Multiple - physiopathology | Genetic Diseases, X-Linked - diagnosis | Gigantism - diagnosis | Intellectual Disability - physiopathology | Heart Defects, Congenital - complications | Saccule and Utricle - physiopathology | Urethral Diseases - complications | Gigantism - genetics | Intellectual Disability - diagnosis | Heart Defects, Congenital - diagnosis | Arrhythmias, Cardiac - complications | Arrhythmias, Cardiac - diagnosis | Heart Defects, Congenital - physiopathology | Pathology, Molecular | Penis - abnormalities | Genetic aspects | Corticosteroids | Nonsense mutation | Frameshift mutation | Insertion | Stop codon | Hydrocortisone | Gene deletion | Testosterone | Clonal deletion | Furin | Diagnosis | Mutation | Utricle | Amino acids
Journal Article
The Journal of Pathology, ISSN 0022-3417, 01/2007, Volume 211, Issue 2, pp. 206 - 218
Journal Article
European Urology, ISSN 0302-2838, 2005, Volume 47, Issue 3, pp. 277 - 287
Journal Article
The Journal of Sexual Medicine, ISSN 1743-6095, 02/2010, Volume 7, Issue 2, pp. 758 - 768
Diabetic men with erectile dysfunction (ED) are less responsive to therapy with type 5 phosphodiesterase (PDE5) inhibitors. Although an impairment of the... 
Diabetes | Nitric Oxide | Human Penile Resistance Arteries | Diabetes and Erectile Dysfunction | Human Corpus Cavernosum | Endothelium | Human penile resistance arteries | Human corpus cavernosum | Nitric oxide | Diabetes and erectile dysfunction | SILDENAFIL | TESTOSTERONE | ENDOTHELIUM-DEPENDENT RELAXATION | TADALAFIL | IMPOTENT MEN | PHOSPHODIESTERASE-5 | MEDIATED RELAXATION | SMOOTH-MUSCLE | NITRIC-OXIDE | CGMP | UROLOGY & NEPHROLOGY | Cyclic GMP - physiology | Diabetes Mellitus, Type 1 - physiopathology | Humans | Middle Aged | Phosphodiesterase 5 Inhibitors | Impotence, Vasculogenic - physiopathology | Phosphodiesterase Inhibitors - pharmacology | Male | Nitric Oxide - physiology | Muscle, Smooth, Vascular - physiopathology | Vascular Resistance - physiology | Diabetic Angiopathies - physiopathology | Penile Implantation | Diabetes Mellitus, Type 2 - physiopathology | Signal Transduction - drug effects | Vascular Resistance - drug effects | Adult | Signal Transduction - physiology | Vasodilation - drug effects | Vasodilation - physiology | In Vitro Techniques | Penis - blood supply | Diabetic Neuropathies - physiopathology | Muscle, Smooth, Vascular - drug effects | Hypertension | Diabetics | Impotence | Prosthesis | Blood vessels | Sodium nitroferricyanide | Esterases | Cyanides | Arteries | Hypercholesterolemia | Dilatation | Implants, Artificial | Transplantation of organs, tissues, etc | Acetylcholine
Journal Article