𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Phenotype–genotype correlation in a patient with co-occurrence of Marfan and LEOPARD syndromes

✍ Scribed by Sa Tang; Hiroshi Hoshida; Mitsuhiro Kamisago; Hisato Yagi; Kazuo Momma; Rumiko Matsuoka

Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
204 KB
Volume
149A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutational and genotype–phenotype correl
Mutational and genotype–phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome
✍ Jiong Yan; Gulam Mustafa Saifi; Tomasz H. Wierzba; Marjorie Withers; Gabriel A. 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 406 KB 👁 1 views

## Abstract Cornelia de Lange syndrome (CdLS) is a multisystem congenital anomaly disorder characterized by prenatal and postnatal growth retardation, developmental delay, distinctive facial dysmorphism, limb malformations, and multiple organ defects. Mutations in the __NIPBL__ gene have been disco

Clustering of mutations associated with
Clustering of mutations associated with mild Marfan-like phenotypes in the 3? region ofFBN1 suggests a potential genotype-phenotype correlation
✍ Palz, Monika; Tiecke, Frank; Booms, Patrick; G�ldner, Burkhard; Rosenberg, Thoma 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 89 KB 👁 2 views

Mutations in the gene for fibrillin-1 (FBN1) cause Marfan syndrome, a dominantly inherited disorder of connective tissue that primarily involves the cardiovascular, ocular, and skeletal systems. There is a remarkable degree of variability both within and between families with Marfan syndrome, and FB

Occurrence, distribution, and phenotype
Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy
✍ Berger, Johannes; Löschl, Beate; Bernheimer, Hanno; Lugowska, Agnieszka; Tylki-S 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 180 KB 👁 1 views

Occurrence, distribution, and phenotype of arylsulfatase A (ASA) mutations were investigated in 27 patients with metachromatic leukodystrophy (MLD) from Central Europe, mainly from Austria (n = 15) and Poland (n = 9). Genomic DNA from leukocytes, fibroblasts, or paraffin-embedded, formalin-fixed bra