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Prenatal Diagnosis, ISSN 0197-3851, 2016, Volume 36, Issue 10, pp. 961 - 965
Journal Article
Journal Article
Journal Article
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Journal Article
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 | Testosterone | Nonsense mutation | Frameshift mutation | Insertion | Furin | Stop codon | Diagnosis | Mutation | Hydrocortisone | Gene deletion | Utricle | Amino acids
Journal Article