Journal ArticleDOI
Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: case report of a family and literature review.
Ümit Übeyt Inan,Mustafa Deniz Yilmaz,Yavuz Demir,Bumin Degirmenci,Sitki Samet Ermis,Faruk Öztürk +5 more
TLDR
An autosomal dominant pattern of inheritance with variable expressivity has been demonstrated andRenal and uro-genital anomalies have been noted variably.About:
This article is published in International Journal of Pediatric Otorhinolaryngology.The article was published on 2006-07-01. It has received 39 citations till now. The article focuses on the topics: Nasolacrimal duct obstruction & Hypodontia.read more
Citations
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Journal ArticleDOI
Nasal, septal, and turbinate anatomy and embryology.
TL;DR: This article discusses the development and anatomy of the nasal septum and structures of the lateral nasal wall and focuses on anatomic variations associated with surgically correctable nasal obstruction.
Book ChapterDOI
Limbal Epithelial Cell Therapy: Past, Present, and Future
TL;DR: In the present perspectives chapter, strategies to treat LSCD are discussed and advances in this important field of regenerative medicine are highlighted.
Journal ArticleDOI
Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs
TL;DR: More prevalent than previously thought, Jalili syndrome presents a model of the effect of different mutations of the same genetic defect, observations of the the same phenotype at different stages of the natural history of the disease, and the influence of epigenetic and tissue-specific factors as causes of phenotypic variability.
Journal ArticleDOI
Congenital alacrima in a patient with blepharophimosis syndrome.
TL;DR: This is the first reported case of alacrima and BPES in a patient with severe ocular surface dryness, which requires aggressive and life long lubrication and tear supplementation.
Journal ArticleDOI
Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome
Saima Riazuddin,Zubair M. Ahmed,Rashmi S. Hegde,Shaheen N. Khan,Idrees Ahmad Nasir,Uzma Shaukat,Sheikh Riazuddin,John A. Butman,Andrew J. Griffith,Thomas B. Friedman,Byung Yoon Choi,Byung Yoon Choi +11 more
TL;DR: The manifestations of recessive FGF3 mutations range from fully penetrant LAMM syndrome to deafness with residual inner ear structures and, by extension, with minimal syndromic features, an observation with implications for cochlear implantation candidacy.
References
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Case report 3
TL;DR: An unusual case of RAG2 gene mutation induced PID presenting clinically as severe combined immunodeficiency (SCID) phenotype rather than Ommen’s syndrome, and acquired CMV infection via breast milk is described.
Book
Smith's recognizable patterns of human malformation
TL;DR: Recognizable Patterns of Malformation: Chromosomal Abnormality Syndromes.
Book
Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders
TL;DR: The senior editor acknowledges that it has become difficult for one person to master genetic nosology in every branch of medicine and to maintain an overview of all medical and relevant genetic literature.
Related Papers (5)
Mutations in different components of FGF signaling in LADD syndrome
Edyta Rohmann,Han G. Brunner,Hülya Kayserili,Oya Uyguner,Gudrun Nürnberg,Erin D. Lew,Angus Dobbie,Veraragavan P. Eswarakumar,Abdullah Uzumcu,M. Ulubil-Emeroglu,J.G. Leroy,Yun Li,Christian Becker,K. Lehnerdt,Cor W. R. J. Cremers,Memnune Yuksel-Apak,Peter Nürnberg,Christian Kubisch,Joseph Schlessinger,J.H.L.M. van Bokhoven,Bernd Wollnik,Bernd Wollnik +21 more