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A stem cell-based toolkit to model Angelman syndrome caused by paternal uniparental disomy of chromosome 15. [PDF]
Hum CellCazaux Mateus F +4 more
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Primordial germ cell specification and early developmental cell states in Pacific oyster. [PDF]
BMC GenomicsGavery MR +6 more
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Teratoma of the nasopharynx in a 46-day-old boy leading to airway obstruction: a case report and literature review. [PDF]
Arch Craniofac SurgJayaraman B +5 more
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Paxillin is crucial for thymus and parathyroid development by regulating the architecture of the third pharyngeal pouch endoderm. [PDF]
Cell Mol Life SciIacolare O +6 more
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2004
AbstractEctodermal dysplasias are a large group of heritable conditions characterized by congenital defects of one or more ectodermal structures and their appendages: hair (hypotrichosis, partial, or total alopecia), nails (dystrophic, hypertrophic, abnormally keratinized), teeth (enamel defect or absent), and sweat glands (hypoplastic or aplastic ...
Peter H, Itin, Susanna K, Fistarol
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AbstractEctodermal dysplasias are a large group of heritable conditions characterized by congenital defects of one or more ectodermal structures and their appendages: hair (hypotrichosis, partial, or total alopecia), nails (dystrophic, hypertrophic, abnormally keratinized), teeth (enamel defect or absent), and sweat glands (hypoplastic or aplastic ...
Peter H, Itin, Susanna K, Fistarol
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Dermatology, 1979
Description of a patient presenting an hidrotic ectodermal dysplasia. Clinical signs were hypotrichosis, dystrophic nails, palmoplantar keratoderma, absence of teeth and hyperhidrosis.
G E, Pierard, D, Van Neste, B, Letot
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Description of a patient presenting an hidrotic ectodermal dysplasia. Clinical signs were hypotrichosis, dystrophic nails, palmoplantar keratoderma, absence of teeth and hyperhidrosis.
G E, Pierard, D, Van Neste, B, Letot
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Acta Paediatrica, 1952
SummaryTwo case reports of ectodernial dysplasia in two females are presented. One case is believed to be the first reported with evidence of direct descent from mother to daughter. The other is a case of the mendelian dominant type. The submission is made that the anhydrotic type is not necessarily always a sex‐linked recessive manifestation in males ...
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SummaryTwo case reports of ectodernial dysplasia in two females are presented. One case is believed to be the first reported with evidence of direct descent from mother to daughter. The other is a case of the mendelian dominant type. The submission is made that the anhydrotic type is not necessarily always a sex‐linked recessive manifestation in males ...
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Anhidrotic ectodermal dysplasia
The Indian Journal of Pediatrics, 1968Two typical cases of anhidrotic ectodermal dysplasia occurring in heterosexual siblings of a family are reported. The role of consanguinity in the parents regarding the severity of the defect in these two siblings is stressed.
A, Bhogaonkar, S K, Khanna
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Dermatologic Clinics, 1987
In order to be considered an ectodermal dysplasia, a disorder should meet the following criteria: it must be congenital; it must be diffuse (not localized) and must involve the epidermis as well as at least one of its appendages; and it must not be progressive.
L M, Solomon, B, Cook, W, Klipfel
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In order to be considered an ectodermal dysplasia, a disorder should meet the following criteria: it must be congenital; it must be diffuse (not localized) and must involve the epidermis as well as at least one of its appendages; and it must not be progressive.
L M, Solomon, B, Cook, W, Klipfel
openaire +2 more sources