BMPR1B mutation causes Pierre Robin sequence
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چکیده
منابع مشابه
BMPR1B mutation causes Pierre Robin sequence
BACKGROUND We investigated a large family with Pierre Robin sequence (PRS). AIM OF THE STUDY This study aims to determine the genetic cause of PRS. RESULTS The reciprocal translocation t(4;6)(q22;p21) was identified to be segregated with PRS in a three-generation family. Whole-genome sequencing and Sanger sequencing successfully detected breakpoints in the intragenic regions of BMRP1B and G...
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HISTORY OF PRESENT ILLNESS The patient was born to a healthy gravida 2, para 2, 27-year-old woman. There was no intrauterine exposure to medications, alcohol, recreational drugs, or tobacco. The infant was delivered vaginally at 38 weeks’ gestation in a local hospital. Her statistics at birth were as follows: weight, 3.58 kg (25th to 50th percentile); length, 51 cm (50th percentile); head circu...
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The case of a 12-year-old female patient with Pierre Robin sequence is reported, in which reduction of the pharyngeal airway leads to obstructive sleep apnea syndrome (OSAS) and excessive daytime sleepiness. Radiological evaluation, computerized tomography and magnetic resonance image showed bilateral temporomandibular ankylosis. Cephalometric data evidenced marked reduction of the posterior ai...
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BACKGROUND Grebe dysplasia, Hunter-Thompson dysplasia, and du Pan dysplasia constitute a spectrum of skeletal dysplasias inherited as an autosomal recessive trait characterized by short stature, severe acromesomelic shortening of the limbs, and normal axial skeleton. The majority of patients with these disorders have biallelic loss-of-function mutations of GDF5. In single instances, Grebe dyspl...
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Leukocyte antigen related (LAR) family receptor protein tyrosine phosphatases (RPTPs) regulate the fine balance between tyrosine phosphorylation and dephosphorylation that is crucial for cell signaling during development and tissue homeostasis. Here we show that LAR RPTPs are required for normal development of the mandibular and maxillary regions. Approximately half of the mouse embryos lacking...
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ژورنال
عنوان ژورنال: Oncotarget
سال: 2017
ISSN: 1949-2553
DOI: 10.18632/oncotarget.16531