Cranio-lenticulo-sutural dysplasia (CLSD, or Boyadjiev–Jabs syndrome) is a neonatal/infancy disease caused by a disorder in the 14th chromosome. It is...
11 KB (1,257 words) - 13:42, 15 October 2024
lethal to mice in utero. In humans, a Sec23A variant causes Cranio-lenticulo-sutural dysplasia, while Sec23B variants are associated with the bone marrow...
9 KB (1,077 words) - 22:23, 8 January 2024
syndrome Craniosynostosis–anal anomalies–porokeratosis syndrome Cranio-lenticulo-sutural dysplasia CREST syndrome Cri du chat Crigler–Najjar syndrome Crome syndrome...
42 KB (4,068 words) - 16:56, 1 November 2024
imperfecta and cranio-lenticulo-sutural dysplasia. Various variations of these disorders are characterized by visible physical dysplasia. This example...
9 KB (939 words) - 20:56, 14 April 2024
Camargo M (March 1989). "A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type". Human...
43 KB (995 words) - 08:29, 11 November 2024
FOXG1 Syndrome Hypertrophic cardiomyopathy Krabbe disease Cranio-lenticulo-sutural dysplasia Machado-Joseph disease Mosaic monosomy 14 Multiple myeloma...
26 KB (1,831 words) - 20:49, 24 August 2024
COPI is linked to an autoimmune disease. COPII is linked to cranio-lenticulo-sutural dysplasia. One of the GGA proteins may be involved in Alzheimer's disease...
21 KB (2,331 words) - 09:27, 5 October 2024
retention (CMRD)/Anderson's disease 246700 SEC23p SEC23A Human Cranio-lenticulo-sutural dysplasia (CLSD) 607812 Zebrafish Skeletal and craniofacial development...
16 KB (1,460 words) - 15:05, 12 October 2024
Cranioectodermal dysplasia; 218330; IFT122 Craniofacial-deafness-hand syndrome; 122880; PAX3 Craniofrontonasal dysplasia; 304110; EFNB1 Cranio-lenticulo-sutural dysplasia;...
234 KB (18,877 words) - 06:16, 6 November 2024