Ara
Toplam kayıt 29, listelenen: 11-20
Disruption of Alx1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding The Spectrum of Autosomal-Recessive Alx-Related Frontonasal Dysplasia
(Cell Press, 2010)
We present an autosomal-recessive frontonasal dysplasia (FND) characterized by bilateral extreme microphthalmia, bilateral oblique facial cleft, complete cleft palate, hypertelorism, wide nasal bridge with hypoplasia of ...
Identification Of Cant1 Mutations In Desbuquois Dysplasia
(Cell Press, 2009)
Desbuquois dysplasia is a severe condition characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. Studying nine Desbuquois families, we identified seven distinct ...
Hypophosphatasia Presenting With Pyridoxine-Responsive Seizures, Hypercalcemia, And Pseudotumor Cerebri: Case Report
(2012)
Hypophosphatasia (HPP) is an inborn error of metabolism characterized by defective bone mineralization caused by a deficiency in alkaline phosphatase (ALP) activity due to mutations in the tissue-nonspecific ALP (TNALP) ...
Kif7 Mutations Cause Fetal Hydrolethalus and Acrocallosal Syndromes
(Nature Publishing Group, 2011)
KIF7, the human ortholog of Drosophila Costal2, is a key component of the Hedgehog signaling pathway. Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation ...
The Arid1B Spectrum In 143 Patients: From Nonsyndromic Intellectual Disability To Coffin-Siris Syndrome
(2019)
Purpose: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed ...
Epigenotype And Phenotype Correlations In Patients With Beckwith-Wiedemann Syndrome
(Turkish J Pediatrics, 2018)
Beckwith-Wiedemann Syndrome (BWS) is one of the most common overgrowth syndromes. Cancer predisposition is an important feature of this clinically heterogeneous syndrome. Patients may have fetal and early childhood overgrowth, ...
Infantile Systemic Hyalinosis: A Case Report
(Deri Zuhrevi Hastaliklar Dernegi, 2009)
Infantile systemic hyalinosis (ISH) is an autosomal recessive, rare disorder in which hyaline deposition occurs in multiple organ systems, including the skin. It is characterised by painful joint contractures, gingival ...
Tbx15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome
(Cell Press, 2008)
Members of the evolutionarily conserved T-box family of transcription factors are important players in developmental processes that include mesoderm formation and patterning and organogenesis both in vertebrates and ...