Journal ArticleDOI
A familial syndrome of short stature associated with facial dysplasia and genital anomalies
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TLDR
The natural history and clinical findings of a probably X-linked recessive growth disorder, found in 7 affected males from 2 generations of the same family, have been described in this paper.About:
This article is published in The Journal of Pediatrics.The article was published on 1970-11-01. It has received 155 citations till now. The article focuses on the topics: Bone age & Short stature.read more
Citations
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Journal ArticleDOI
A clinical study of Noonan syndrome.
TL;DR: The mean age at diagnosis of Noonan syndrome in this group was 9.0 years, and earlier diagnosis of this common condition would aid both clinical management and genetic counselling.
Journal ArticleDOI
Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative Rho Rac guanine nucleotide exchange factor
N. German Pasteris,Amy B. Cadle,Lindsay J. Logie,Mary Porteous,Charles E. Schwartz,Roger E. Stevenson,Thomas W. Glover,R. Sid Wilroy,Jerome L. Gorski +8 more
TL;DR: Results provide compelling evidence that FGD1 is responsible for FGDY and suggest that FGd1 is a Rho/RacGEF involved in mammalian development.
Journal ArticleDOI
Dental agenesis: genetic and clinical perspectives
TL;DR: The objective was to review the current literature on the molecular mechanisms that are responsible for selective dental agenesis in humans and to present a detailed overview of syndromes with hypodontia and their causative genes.
Book ChapterDOI
Rho proteins, mental retardation and the neurobiological basis of intelligence
Elly van Galen,Ger J A Ramakers +1 more
TL;DR: A picture is unfolding showing how mutations that cause abnormal Rho signaling result in abnormal neuronal connectivity which gives rise to deficient cognitive functioning in humans.
Journal ArticleDOI
Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients
Alfredo Orrico,Lucia Galli,Maria Luigia Cavaliere,Livia Garavelli,Jean Pierre Fryns,Ellen Crushell,Maria Michela Rinaldi,Ana Maria Duarte Medeira,Vincenzo Sorrentino +8 more
TL;DR: This study conducted a single-strand conformation polymorphism (SSCP) analysis of the entire coding region of FGD1 in 46 AAS patients and identified eight novel mutations, including one insertion, four deletions and three missense mutations.
References
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Book
Growth at Adolescence
TL;DR: This book is the expansion of a prize essay on the subject of obesity in childhood, with special reference to Hilde Bruch's theory on the causation of this condition, and is a useful summary of the statistical facts regarding obesity.
Journal ArticleDOI
Hypertelorism With Turner Phenotype: A New Syndrome With Associated Congenital Heart Disease
TL;DR: Nine patients with remarkably similar facies with a previously unrecognized syndrome of valvular pulmonary stenosis and multiple extra cardiac anomalies with similar associated lesions are reported on in 1962.
Journal Article
Genetic pituitary dwarfism with high serum concentation of growth hormone--a new inborn error of metabolism?
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Growth-hormone deficiency in man: an isolated, recessively inherited defect.
TL;DR: A deficiency of human growth hormone not associated with other pituitary deficiencies was observed in midgets with sexual ateliosis, a form of dwarfism inherited as an autosomal recessive trait.
Journal ArticleDOI
The Turner Phenotype In The Male
TL;DR: The clinical, pathologic, and cytogenetic data of 5 phenotypic males who exhibited some of the stigmas of Turner's syndrome are reported, indicating a wide diversity of gonadal development, ranging from normal to totally absent tests.