Results 131 to 140 of about 2,263,137 (364)
Acute Intestinal Obstruction in Infancy and Childhood: Congenital Abnormalities: Acquired Causes: Treatment [PDF]
, 1927 Alastair H. MacLennan
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous pathogenic variants in TBX3 cause Ulnar‐Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation ...
Ziv Halperin, Karin Weiss
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Dislocated Extensor Mechanism in a Child With Bilateral Absent Patella Without Other Congenital Abnormalities. [PDF]
J Am Acad Orthop Surg Glob Res Rev, 2023 Yu A +5 more
europepmc +1 more source
A CASE OF BILATERAL BUPHTHALMIA WITH MULTIPLE CONGENITAL ABNORMALITIES IN ONE EYE [PDF]
, 1930 G. G. Penman
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT A de novo, missense variant in ITPR1‐inositol 1,4,5‐trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole‐genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay.
Thania Ordaz +12 more
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AN ENORMOUS FÆCAL TUMOUR IN A GIRL WITH CONGENITAL ABNORMALITIES OF HER PELVIC VISCERA. [PDF]
, 1909 H. Butler +2 more
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Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato +2 more
wiley +1 more source
Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia. [PDF]
Hum Genet, 2023 Zagnoli-Vieira G +6 more
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ADHESIONS OF THE SIGMOID ASSOCIATED WITH CONGENITAL ABNORMALITY OF THE MESENTERY CAUSING CONSTIPATION. [PDF]
, 1919 J. P. Lockhart-Mummery, Drury Pennington
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips +8 more
wiley +1 more source