نتائج البحث

Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia.

• Authors : Taylor RL; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology Medicine and Health, The University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), 6Th Floor St Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK.

Subjects: Microcephaly*/Microcephaly*/Microcephaly*/genetics ; Microphthalmos*/Microphthalmos*/Microphthalmos*/genetics; Humans

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Mar 04; Vol. 17 (1), pp. 110. Date of Electronic Publication: 2022 Mar 04.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

تفاصيل العنوان

Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.

• Authors : van Rahden VA; Rau I; Fuchs S

Subjects: Genetic Diseases, X-Linked/Genetic Diseases, X-Linked/Genetic Diseases, X-Linked/*pathology ; Microphthalmos/Microphthalmos/Microphthalmos/*pathology ; Skin/Skin/Skin/*pathology Microphthalmia, syndromic 7

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2014 Apr 15; Vol. 9, pp. 53. Date of Electronic Publication: 2014 Apr 15.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

تفاصيل العنوان

Anophthalmia and microphthalmia.

• Authors : Verma AS; MRC Human Genetics Unit, Edinburgh, UK. ; Fitzpatrick DR

Subjects: Anophthalmos/Anophthalmos/Anophthalmos/*genetics ; HMGB Proteins/HMGB Proteins/HMGB Proteins/*genetics ; Microphthalmos/Microphthalmos/Microphthalmos/*genetics

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2007 Nov 26; Vol. 2, pp. 47. Date of Electronic Publication: 2007 Nov 26.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

تفاصيل العنوان

Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children – frequent and underestimated cause of disability among Czech gypsies.

• Authors : Lassuthova, Petra¹ (AUTHOR) ; Šišková, Dana² (AUTHOR); Haberlová, Jana¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 2014, Vol. 9 Issue 1, p1-10. 10p. 10 Color Photographs, 1 Chart.

تفاصيل العنوان