Goldberg–Shprintzen syndrome is a very rare connective tissue condition associated with mutations in KIAA1279 gene which encodes KIF-binding protein (KBP)...

velocardiofacial syndrome, Shprintzen syndrome, DiGeorge sequence/syndrome, Sedlackova syndrome, and conotruncal anomaly face syndrome. All are now understood...

syndrome Ehlers–Danlos syndrome Homocystinuria Loeys–Dietz syndrome MASS phenotype Multiple endocrine neoplasia, type 2B Shprintzen–Goldberg syndrome...

Watanabe et al. These authors thought the condition was the Shprintzen-Goldberg syndrome but the patient lacked a mutation in the SKI gene. A second case...

Mowat–Wilson syndrome is a rare genetic disorder that was clinically delineated by David R. Mowat and Meredith J. Wilson in 1998. The condition affects...

Guillain–Barré syndrome Gillespie syndrome Gitelman syndrome Gleich's syndrome GMS syndrome Goldberg–Shprintzen syndrome Goldenhar syndrome Gomez and López-Hernández...

System. "Entry - #182212 - SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; SGS - OMIM". www.omim.org. Retrieved 2023-01-28. de Jong T, Bannink N, Bredero-Boelhouwer...

autosomal recessive 2 Rubinstein-Taybi syndrome due to CREBBP mutations Sclerosteosis 1 Shprintzen-Goldberg syndrome Spondyloepimetaphyseal dysplasia with...

glomerulosclerosis and neurodevelopmental syndrome Fontaine progeroid syndrome Goldberg-Shprintzen megacolon syndrome Growth delay due to insulin-like growth...

syndrome 1, 2, 5, 8, and 9 SHORT syndrome Shprintzen-Goldberg syndrome Silver-Russell syndrome 1 and 2 Smith-Lemli-Opitz syndrome Spinal muscular atrophy, lower...

PMID 30031689. Mitchel MW, Moreno-De-Luca D, Myers SM, Levy RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent Deletion Syndrome". In Adam MP, Ardinger...

Prometheus Books, ISBN 978-0-87975-513-3 Pulver AE, Nestadt G, Goldberg R, Shprintzen RJ, Lamacz M, Wolyniec PS, Morrow B, Karayiorgou M, Antonarakis...

autosomal dominant Weill–Marchesani syndrome, isolated ectopia lentis, MASS phenotype, and Shprintzen–Goldberg syndrome. Mutations in FBN1 and FBN2 are associated...

Short stature, idiopathic; 604271; GHR Shprintzen–Goldberg syndrome; 182212; FBN1 Shwachman–Bodian–Diamond syndrome; 260400; SBDS Sialic acid storage disorder...