相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Noonan-Like Syndrome With Loose Anagen Hair Associated With Growth Hormone Insensitivity and Atypical Neurological Manifestations
D. Capalbo et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Diabetes Mellitus in Children and Adolescents with Genetic Syndromes
F. Schmidt et al.
EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES (2012)
Autoimmune disorders in women with turner syndrome and women with karyotypically normal primary ovarian insufficiency
Vladimir K. Bakalov et al.
JOURNAL OF AUTOIMMUNITY (2012)
Phenotypic Heterogeneity in Woodhouse-Sakati Syndrome: Two New Families With a Mutation in the C2orf37 Gene
Tawfeg Ben-Omran et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin
Rabia Habib et al.
GENE (2011)
Woodhouse-Sakati Syndrome in an Israeli-Arab Family Presenting with Youth-Onset Diabetes Mellitus and Delayed Puberty
Marianna Rachmiel et al.
HORMONE RESEARCH IN PAEDIATRICS (2011)
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome
Sarah B. Pierce et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome
K. Steindl et al.
CLINICAL GENETICS (2010)
C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients
A. M. Alazami et al.
CLINICAL GENETICS (2010)
ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency
Ronen Spiegel et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2010)
Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome
Anas M. Alazami et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Three siblings with Woodhouse-Sakati syndrome in an Indian family
George Koshy et al.
CLINICAL DYSMORPHOLOGY (2008)
Dystonia in the Woodhouse Sakati syndrome: A new family and literature review
Susanne A. Schneider et al.
MOVEMENT DISORDERS (2008)
Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1
Abdulaziz Al-Semari et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Woodhouse Sakati syndrome associated with bilateral keratoconus
SA Al-Swailem et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2006)
Extensive personal experience - Laron syndrome (primary growth hormone resistance or insensitivity): The personal experience 1958-2003
Z Laron
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2004)
The regulation of GH secretion by sex steroids
JA Chowen et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2004)